Variant #0000277795 (NC_000007.13:g.75933417C>T, HSPB1(NM_001540.3):c.545C>T)

Chromosome 7
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.75933417C>T
DNA change (hg38) g.76304100C>T
Published as HSPB1(NM_001540.3):c.545C>T (p.P182L)
ISCN -
DB-ID HSPB1_000017 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

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