Variant #0000996808 (NC_000007.13:g.99702861A>C, NC_000007.13(NM_004722.3):c.728-2A>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.99702861A>C
DNA change (hg38) -
Published as AP4M1(NM_004722.3):c.728-2A>C (p.?)
ISCN -
DB-ID AP4M1_000072
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_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2024-08-28 13:16:32 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AP4M1 NM_004722.3 ?/. - c.728-2A>C r.spl? p.?
TAF6 NM_005641.3 ?/. - c.*2008T>G r.(=) p.(=)
MCM7 NM_005916.4 ?/. - c.-3944T>G r.(?) p.(=)
CNPY4 NM_152755.1 ?/. - c.-14507A>C r.(?) p.(=)


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.