Variant #0000574495 (NC_000023.10:g.153219844C>T, HCFC1(NM_005334.2):c.4006G>A)

Chromosome X
Allele Unknown
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.153219844C>T
DNA change (hg38) g.153954393C>T
Published as HCFC1(NM_005334.3):c.4006G>A (p.A1336T)
ISCN -
DB-ID HCFC1_000064
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) 1.0E-5 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HCFC1 NM_005334.2 ?/. - c.4006G>A r.(?) p.(Ala1336Thr)