Variant #0000331734 (NC_000007.13:g.99704982T>C, NM_004722.3:c.*477T>C (AP4M1))

Chromosome 7
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.99704982T>C
DNA change (hg38) g.100107359T>C
Published as TAF6(NM_001190415.1):c.2032A>G (p.(Ser678Gly))
ISCN -
DB-ID TAF6_000001
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) 3.0E-5 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 2022-05-09 15:24:52 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AP4M1 NM_004722.3 ?/. - c.*477T>C r.(=) p.(=)
TAF6 NM_005641.3 ?/. - c.1921A>G r.(?) p.(Ser641Gly)
MCM7 NM_005916.4 ?/. - c.-6065A>G r.(?) p.(=)
CNPY4 NM_152755.1 ?/. - c.-12386T>C r.(?) p.(=)


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