Variant #0000977943 (NC_000007.13:g.99701292G>A, NM_004722.3:c.520G>A (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.99701292G>A
DNA change (hg38) -
Published as AP4M1(NM_004722.4):c.520G>A (p.(Val174Ile))
ISCN -
DB-ID AP4M1_000068
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) 1.0E-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 2024-04-19 20:27:30 +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.520G>A r.(?) p.(Val174Ile)
TAF6 NM_005641.3 ?/. - c.*3577C>T r.(=) p.(=)
MCM7 NM_005916.4 ?/. - c.-2375C>T r.(?) p.(=)
CNPY4 NM_152755.1 ?/. - c.-16076G>A r.(?) p.(=)


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