Variant #0000096868 (NC_000016.9:g.67199483A>G, NM_001374675.1:c.182A>G (HSF4))

Individual ID 00065064
Chromosome 16
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.67199483A>G
DNA change (hg38) g.67165580A>G
Published as 1078A>G
ISCN -
DB-ID HSF4_000006 See all 2 reported entries
Variant remarks -
Reference PubMed: Shi 2008
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Deepti Anand
Database submission license No license selected
Created by Deepti Anand
Date created 2016-05-16 22:07:01 +02:00 (CEST)
Date last edited 2016-10-18 13:07:09 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HSF4 NM_001374675.1 +?/. - c.182A>G r.(?) p.(Gln61Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000065206 DNA;protein arraySNP - - HSF4 1 Deepti Anand


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