Variant #0000976138 (NC_000004.11:g.146576317C>T, NM_172250.2:c.988C>T (MMAA))

Chromosome 4
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.146576317C>T
DNA change (hg38) -
Published as MMAA(NM_172250.3):c.988C>T (p.(Arg330*))
ISCN -
DB-ID MMAA_000014 See all 2 reported entries
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     
MMAA NM_172250.2 +/. - c.988C>T r.(?) p.(Arg330*)


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