Variant #0000679967 (NC_000014.8:g.24730989T>C, NM_000359.2:c.420A>G (TGM1))

Chromosome 14
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.24730989T>C
DNA change (hg38) -
Published as TGM1(NM_000359.3):c.420A>G (p.I140M)
ISCN -
DB-ID TGM1_000155
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) 9.0E-5 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Date created 2020-08-06 14:59:34 +02:00 (CEST)
Date last edited 2021-09-17 14:40:49 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TGM1 NM_000359.2 +/. - c.420A>G r.(?) p.(Ile140Met)
RABGGTA NM_182836.2 +/. - c.*3832A>G r.(=) p.(=)


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