Variant #0000521741 (NC_000004.11:g.146575292A>G, NM_172250.2:c.966A>G (MMAA))

Chromosome 4
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.146575292A>G
DNA change (hg38) g.145654140A>G
Published as MMAA(NM_172250.3):c.966A>G (p.P322=)
ISCN -
DB-ID MMAA_000013
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) 0.00061 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 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2020-06-16 16:04:02 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MMAA NM_172250.2 -?/. - c.966A>G r.(?) p.(Pro322=)


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