Variant #0000408031 (NC_000023.10:g.153228714C>T, HCFC1(NM_005334.2):c.674G>A)

Individual ID 00183104
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.153228714C>T
DNA change (hg38) g.153963263C>T
Published as HCFC1 S225N
ISCN -
DB-ID HCFC1_000043
Variant remarks -
Reference PubMed: Hu 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HCFC1 NM_005334.2 ./. - c.674G>A r.(?) p.(Ser225Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184062 DNA SEQ;SEQ-NG - WES-X chromosome HCFC1 1 Johan den Dunnen