Variant #0000118957 (NC_000016.9:g.81129822G>A, NM_004483.4:c.62C>T (GCSH))

Individual ID 00074416
Chromosome 16
Allele Paternal (inferred)
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.81129822G>A
DNA change (hg38) g.81096217G>A
Published as -
ISCN -
DB-ID GCSH_000002 See all 2 reported entries
Variant remarks -
Reference PubMed: Kure 2002
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.54127 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2016-06-28 21:24:34 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GCSH NM_004483.4 -/. 1 c.62C>T r.62c>u p.Ser21Leu



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000074577 DNA;RNA RT-PCR;SEQ - - GCSH 2 Johan den Dunnen


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