Variant #0000323782 (NC_000014.8:g.77786877G>C, NM_013382.5:c.148C>G (POMT2))

Chromosome 14
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.77786877G>C
DNA change (hg38) g.77320534G>C
Published as POMT2(NM_013382.5):c.148C>G (p.(Arg50Gly))
ISCN -
DB-ID POMT2_000092 See all 3 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) 0.00012 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 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.148C>G r.(?) p.(Arg50Gly)
GSTZ1 NM_145870.2 ?/. - c.-635G>C r.(?) p.(=)


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