Variant #0000091174 (NC_000016.9:g.67199488T>C, NM_001374675.1:c.187T>C (HSF4))

Individual ID 00060213
Chromosome 16
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.67199488T>C
DNA change (hg38) g.67165585T>C
Published as -
ISCN -
DB-ID HSF4_000013 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Juhua Yang
Database submission license No license selected
Created by Juhua Yang
Date created 2015-01-14 03:47:46 +01:00 (CET)
Date last edited 2015-01-16 16:36:58 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HSF4 NM_001374675.1 +/. 4 c.187T>C r.(?) p.(Phe63Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000060200 DNA SEQ - - HSF4 1 Juhua Yang


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