Variant #0000325448 (NC_000017.10:g.42980166A>G, EFTUD2(NM_004247.3):c.-3434T>C)

Chromosome 17
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.42980166A>G
DNA change (hg38) g.44902798A>G
Published as CCDC103(NM_001258395.1):c.710A>G (p.(Glu237Gly))
ISCN -
DB-ID CCDC103_000004
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
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.*4549T>C r.(=) p.(=)
EFTUD2 NM_004247.3 -?/. - c.-3434T>C r.(?) p.(=)
CCDC103 NM_213607.2 -?/. - c.710A>G r.(?) p.(Glu237Gly)