Variant #0000273308 (NC_000023.10:g.47487513G>C, CFP(NM_002621.2):c.391C>G)

Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.47487513G>C
DNA change (hg38) g.47628114G>C
Published as CFP(NM_001145252.1):c.391C>G (p.(Gln131Glu)), CFP(NM_002621.2):c.391C>G (p.Q131E)
ISCN -
DB-ID CFP_000025 See all 2 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) 0.00172 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CFP NM_002621.2 -/. - c.391C>G r.(?) p.(Gln131Glu)