Variant #0000574503 (NC_000023.10:g.153220560T>G, HCFC1(NM_005334.2):c.3290A>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.153220560T>G
DNA change (hg38) g.153955109T>G
Published as HCFC1(NM_005334.2):c.3290A>C (p.N1097T, p.(Asn1097Thr)), HCFC1(NM_005334.3):c.3290A>C (p.N1097T)
ISCN -
DB-ID HCFC1_000026 See all 3 reported entries
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) 0.0004 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HCFC1 NM_005334.2 -?/. - c.3290A>C r.(?) p.(Asn1097Thr)