Variant #0000455435 (NC_000010.10:g.118434792C>T, NM_025015.2:c.1528G>A (HSPA12A))

Individual ID 00219399
Chromosome 10
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.118434792C>T
DNA change (hg38) g.116675281C>T
Published as Val510Met
ISCN -
DB-ID HSPA12A_000001
Variant remarks -
Reference PubMed: Olivé 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 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 2019-02-09 21:02:02 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HSPA12A NM_025015.2 ?/. - c.1528G>A r.(?) p.(Val510Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000220471 DNA;RNA RT-PCR;SEQ;SEQ-NG - candidate gene screening and WES TRIM54, TRIM63 11 Johan den Dunnen


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