Overview

Variant ID 19305
Entrez Gene ID 80031
Gene SEMA6D (GeneCards)
Location hg19 15:48078934-48078934
hg38 15:47786737-47786737
Disease Xeroderma Pigmentosum (view all the variants in this disease)
Method HiSeq X Ten
Mutation(HGVS format) NC_000015.9:g.48078934 C>T (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 102531392

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.4943
CADD Raw score (version 1.3) -0.202301 (Deleterious)
FATHMM raw prediction score 0.07948 (Tolerated)
Deleterious probability by DeFine 0.4292 (Neutral)
Entrez Gene ID 80031 (NCBI Gene)
Official Gene Symbol SEMA6D (GeneCards)
Number of variants in SEMA6D in this database 17 (view all the variants)
Full name semaphorin 6D
Band 15q21.1
Other IDs Vega: OTTHUMG00000172110
OMIM: 609295
HGNC: HGNC:16770
Ensembl: ENSG00000137872
Other names None
Summary Semaphorins are a large family, including both secreted and membrane associated proteins, many of which have been implicated as inhibitors or chemorepellents in axon pathfinding, fasciculation and branching, and target selection. All semaphorins possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Additional sequence motifs C-terminal to the semaphorin domain allow classification into distinct subfamilies. Results demonstrate that transmembrane semaphorins, like the secreted ones, can act as repulsive axon guidance cues. This gene encodes a class 6 vertebrate transmembrane semaphorin that demonstrates alternative splicing. Several transcript variants have been identified and expression of the distinct encoded isoforms is thought to be regulated in a tissue- and development-dependent manner. [provided by RefSeq, Nov 2010]

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;