Variant #0000574501 (NC_000023.10:g.153220529_153220615del, HCFC1(NM_005334.2):c.3270_3356del)

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.153220529_153220615del
DNA change (hg38) g.153955078_153955164del
Published as HCFC1(NM_005334.2):c.3270_3356del (p.(Ala1094_Thr1122del))
ISCN -
DB-ID HCFC1_000068
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) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HCFC1 NM_005334.2 ?/. - c.3270_3356del r.(?) p.(Thr1095_Ala1123del)