Variant #0000262597 (NC_000007.13:g.99702947G>A, NM_004722.3:c.812G>A (AP4M1))

Chromosome 7
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.99702947G>A
DNA change (hg38) g.100105324G>A
Published as AP4M1(NM_004722.3):c.812G>A (p.R271H)
ISCN -
DB-ID AP4M1_000017
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) 0.06997 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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.812G>A r.(?) p.(Arg271His)
TAF6 NM_005641.3 -/. - c.*1922C>T r.(=) p.(=)
MCM7 NM_005916.3 -/. - c.-4030C>T r.(?) p.(=)
MCM7 NM_005916.4 -/. - c.-4030C>T r.(?) p.(=)
CNPY4 NM_152755.1 -/. - c.-14421G>A r.(?) p.(=)


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