Variant #0000086673 (NC_000007.13:g.75933417C>T, HSPB1(NM_001540.3):c.545C>T)

Individual ID 00056465
Chromosome 7
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.75933417C>T
DNA change (hg38) g.76304100C>T
Published as -
ISCN -
DB-ID HSPB1_000017 See all 2 reported entries
Variant remarks -
Reference PubMed: Evgrafov 2004, OMIM:var0004
ClinVar ID -
dbSNP ID rs28937569
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HSPB1 NM_001540.3 +/. 3 c.545C>T r.(?) p.(Pro182Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000056426 DNA SEQ - - HSPB1 1 Johan den Dunnen