Variant #0000854190 (NC_000015.9:g.78398107C>G, NM_006383.3:c.516G>C (CIB2))

Chromosome 15
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.78398107C>G
DNA change (hg38) -
Published as CIB2(NM_001301224.1):c.531G>C (p.M177I)
ISCN -
DB-ID SH2D7_000008
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) 1.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2022-05-09 15:47:41 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SH2D7 NM_001101404.1 ?/. - c.*2250C>G r.(=) p.(=)
CIB2 NM_006383.3 ?/. - c.516G>C r.(?) p.(Met172Ile)


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