Variant #0000325737 (NC_000017.10:g.78073569T>C, NM_000152.3:c.-2153T>C (GAA))

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.78073569T>C
DNA change (hg38) g.80099770T>C
Published as CCDC40(NM_017950.3):c.3424T>C (p.(Ser1142Pro))
ISCN -
DB-ID CCDC40_000100
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) 0.00093 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-08-06 14:59:34 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     
GAA NM_000152.3 -?/. - c.-2153T>C r.(?) p.(=) -
CCDC40 NM_017950.3 -?/. - c.3424T>C r.(?) p.(Ser1142Pro) -


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