Variant #0000323666 (NC_000014.8:g.50088053G>A, NM_001083908.1:c.*4207C>T (DNAAF2))

Chromosome 14
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.50088053G>A
DNA change (hg38) g.49621335G>A
Published as MGAT2(NM_002408.3):c.67G>A (p.(Val23Ile))
ISCN -
DB-ID MGAT2_000001
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 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2022-11-01 13:01:21 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
RPL36AL NM_001001.3 -?/. - c.-810C>T r.(?) p.(=)
DNAAF2 NM_001083908.1 -?/. - c.*4207C>T r.(=) p.(=)
MGAT2 NM_002408.3 -?/. - c.67G>A r.(?) p.(Val23Ile)


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