Overview

Variant ID 15996
Entrez Gene ID 2977
Gene GUCY1A2 (GeneCards)
Location hg19 11:106993524-106993524
hg38 11:107122798-107122798
Disease Xeroderma Pigmentosum (view all the variants in this disease)
Method HiSeq X Ten
Mutation(HGVS format) NC_000011.9:g.106993524 T>C (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 135006516

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.6417
CADD Raw score (version 1.3) -0.544141 (Deleterious)
FATHMM raw prediction score 0.04245 (Tolerated)
Deleterious probability by DeFine 0.0641 (Neutral)
Entrez Gene ID 2977 (NCBI Gene)
Official Gene Symbol GUCY1A2 (GeneCards)
Number of variants in GUCY1A2 in this database 10 (view all the variants)
Full name guanylate cyclase 1 soluble subunit alpha 2
Band 11q22.3
Other IDs Vega: OTTHUMG00000166296
OMIM: 601244
HGNC: HGNC:4684
Ensembl: ENSG00000152402
Other names GC-SA2, GUC1A2
Summary Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

Individual #1

Individual ID 29217584.23 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Female Patient  
Phenotype 3  
Disease Xeroderma Pigmentosum (view all the variants in this disease)
OMIM ID 278700

Publication #1: 29217584

Pubmed ID 29217584
Title Aging and neurodegeneration are associated with increased mutations in single human neurons.
Journal Science
Publication date 2018.02
Disease Cockayne syndrome Xeroderma Pigmentosum
Number of cases Male cases: 3; Female cases: 6; cases of unknown sex: 15;