Variant #0000393349 (NC_000023.10:g.153229658G>C, HCFC1(NM_005334.2):c.420C>G)

Individual ID 00172609
Chromosome X
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.153229658G>C
DNA change (hg38) g.153964207G>C
Published as T140T
ISCN -
DB-ID HCFC1_000042
Variant remarks found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/208 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Lucy Raymond
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2009-10-28 15:09:48 +01:00 (CET)
Date last edited 2022-10-13 06:15:56 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HCFC1 NM_005334.2 ?/. - c.420C>G r.(?) p.(His140Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173492 DNA SEQ - - MAGEA3 1 Lucy Raymond