Variant #0000860981 (NC_000007.13:g.99701263T>C, NM_004722.3:c.491T>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.99701263T>C
DNA change (hg38) -
Published as AP4M1(NM_004722.3):c.491T>C (p.V164A)
ISCN -
DB-ID AP4M1_000064
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) Retrieve
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 15:51:19 +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     
AP4M1 NM_004722.3 ?/. - c.491T>C r.(?) p.(Val164Ala)
TAF6 NM_005641.3 ?/. - c.*3606A>G r.(=) p.(=)
MCM7 NM_005916.4 ?/. - c.-2346A>G r.(?) p.(=)
CNPY4 NM_152755.1 ?/. - c.-16105T>C r.(?) p.(=)


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