Variant #0000306193 (NC_000014.8:g.77786864G>T, NM_013382.5:c.161C>A (POMT2))

Chromosome 14
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.77786864G>T
DNA change (hg38) g.77320521G>T
Published as POMT2(NM_013382.5):c.161C>A (p.A54E)
ISCN -
DB-ID POMT2_000006 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) 0.00641 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 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
POMT2 NM_013382.5 -/. - c.161C>A r.(?) p.(Ala54Glu)
GSTZ1 NM_145870.2 -/. - c.-648G>T r.(?) p.(=)


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