Variant #0000659179 (NC_000023.10:g.153229604A>G, HCFC1(NM_005334.2):c.474T>C)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.153229604A>G
DNA change (hg38) g.153964153A>G
Published as HCFC1(NM_005334.2):c.474T>C (p.D158=)
ISCN -
DB-ID HCFC1_000100
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2020-03-23 16:13:27 +01:00 (CET)
Date last edited 2020-07-21 14:01:48 +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.474T>C r.(?) p.(Asp158=)