Variant #0000947979 (NC_000002.11:g.96931094A>C, NM_017849.3:c.26T>G (TMEM127))

Chromosome 2
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.96931094A>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID CIAO1_000016
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) Retrieve
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
Date created 2023-11-27 17:35:39 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CIAO1 NM_004804.2 ?/. - c.-995A>C r.(?) p.(=)
TMEM127 NM_017849.3 ?/. - c.26T>G r.(?) p.(Leu9Arg)


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