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Gene

GFRA1

GDNF family receptor alpha 1

Summary

Cytogenetic location
10q25.3
Coordinates
Chromosome 10: 116,056,925–116,273,206 (GRCh38)
Exons
11 exons across 216.3 kb
Protein
465 amino acids
Inheritance
Autosomal recessive
Also known as
RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1
Previous symbols
GDNFRA
MANE Select transcript
ENST00000355422.11NM_005264.8
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How GFRA1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 10, with a bracket where GFRA1 sits. GFRA1 and 7 genes near it on chromosome 10, from 115,665,066 to 116,665,065.Chromosome 1010q25.3p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.3115.8 Mb116 Mb116.2 Mb116.4 Mb116.6 MbATRNL1: 115,092,844–115,948,999, forward strandATRNL1GFRA1: 116,056,925–116,273,206, reverse strandGFRA1CCDC172: 116,324,388–116,380,029, forward strandCCDC172PNLIPRP3: 116,427,847–116,477,964, forward strandPNLIPRP3PNLIP: 116,545,931–116,567,855, forward strandPNLIPPNLIPRP1: 116,590,385–116,609,175, forward strandPNLIPRP1PNLIPRP2: 116,620,953–116,645,143, forward strandPNLIPRP2SPMIP5: 116,662,208–116,670,312, reverse strandSPMIP5Diagram of GFRA1: 11 exons on the reverse strand of chromosome 10Exon 6: 1 known disease-causing siteExon 11: 116,056,925–116,064,544, 7,620 basesExon 10: 116,065,573–116,065,626, 54 basesExon 9: 116,089,741–116,089,922, 182 basesExon 8: 116,093,702–116,093,836, 135 basesExon 7: 116,096,655–116,096,764, 110 basesExon 6: 116,125,221–116,125,557, 337 basesExon 5: 116,211,631–116,211,645, 15 basesExon 4: 116,269,503–116,269,586, 84 basesExon 3: 116,270,822–116,271,115, 294 basesExon 2: 116,271,990–116,272,275, 286 basesExon 1: 116,273,163–116,273,206, 44 bases1115′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 9.2 kb of the gene's 216.3 kb; 1,398 of those bases code for the protein.

How a genome test reads GFRA1

1

position in GFRA1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 216.3 kb of GFRA1, introns included, not only the 9.2 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). GFRA1 gene: GDNF family receptor alpha 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/gfra1

Vancouver

Dante Labs. GFRA1 gene: GDNF family receptor alpha 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/gfra1

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