Variant #0000063147 (NC_000007.13:g.75932038G>A, NM_001540.3:c.9G>A (HSPB1))

Individual ID 00035952
Chromosome 7
Allele Parent #1
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.75932038G>A
DNA change (hg38) g.76302721G>A
Published as -
ISCN -
DB-ID HSPB1_000004 See all 4 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID rs77586767
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00365 View details
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2015-04-02 13:01:39 +02:00 (CEST)
Date last edited 2016-11-12 11:03:31 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HSPB1 NM_001540.3 -/. 1 c.9G>A r.(?) p.(Glu3=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000036022 DNA SEQ - - HSPB1 1 Andreas Laner


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