chr3:43122250:C>T Detail (hg19) (POMGNT2)

Information

Genome

Assembly Position
hg19 chr3:43,122,250-43,122,250
hg38 chr3:43,080,758-43,080,758 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_032806.5:c.674G>A NP_116195.2:p.Arg225Gln
Ensemble ENST00000344697.3:c.674G>A ENST00000344697.3:p.Arg225Gln
ENST00000441964.1:c.674G>A ENST00000441964.1:p.Arg225Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 614828 OMIM
HGNC 25902 HGNC
Ensembl ENSG00000144647 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv12224772 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign criteria provided, single submitter not specified germline Detail
Likely benign 2024-01-19 criteria provided, single submitter Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 germline Detail
Likely benign 2020-06-05 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_032806.6(POMGNT2):c.674G>A (p.Arg225Gln) AND not specified ClinVar Detail
NM_032806.6(POMGNT2):c.674G>A (p.Arg225Gln) AND Muscular dystrophy-dystroglycanopathy (congenital wi... ClinVar Detail
NM_032806.6(POMGNT2):c.674G>A (p.Arg225Gln) AND not provided ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs138980930 dbSNP
Genome
hg19
Position
chr3:43,122,250-43,122,250
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8642
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1571395510298542E-4
Chromosome Counts in All Race (ExAC)
120798
Allele Counts in All Race (ExAC)
85
Heterozygous Counts in All Race (ExAC)
83
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
7.036540340071856E-4
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