Variant #0000659331 (NC_000023.10:g.47486558C>T, CFP(NM_002621.2):c.748G>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.47486558C>T
DNA change (hg38) g.47627159C>T
Published as CFP(NM_001145252.1):c.748G>A (p.(Gly250Ser)), CFP(NM_002621.2):c.748G>A (p.G250S)
ISCN -
DB-ID CFP_000021 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) 0.00103 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2020-03-23 16:13:27 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CFP NM_002621.2 ?/. - c.748G>A r.(?) p.(Gly250Ser)