Variant #0000658153 (NC_000017.10:g.42977229T>C, EFTUD2(NM_004247.3):c.-497A>G)

Chromosome 17
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.42977229T>C
DNA change (hg38) g.44899861T>C
Published as CCDC103(NM_001258397.1):c.-10+2T>C (p.(=))
ISCN -
DB-ID EFTUD2_000125
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) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GFAP NM_002055.4 ?/. - c.*7486A>G r.(=) p.(=)
EFTUD2 NM_004247.3 ?/. - c.-497A>G r.(?) p.(=)
CCDC103 NM_213607.2 ?/. - c.-10+2T>C r.spl? p.?