chr6:146056400:C>G Detail (hg19) (EPM2A, EPM2A-DT, LOC129997381)

Information

Genome

Assembly Position
hg19 chr6:146,056,400-146,056,400
hg38 chr6:145,735,264-145,735,264 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005670.3:c.235G>C NP_005661.1:p.Gly79Arg
NM_001018041.1:c.235G>C NP_001018051.1:p.Gly79Arg
Ensemble ENST00000367519.9:c.235G>C ENST00000367519.9:p.Gly79Arg
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 Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 607566 OMIM
HGNC 3413 HGNC
Ensembl ENSG00000112425 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2022-10-18 criteria provided, single submitter Progressive myoclonic epilepsy germline Detail
Uncertain significance 2023-04-21 criteria provided, multiple submitters, no conflicts not provided germline Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Lafora disease unknown Detail
Uncertain significance 2018-08-01 criteria provided, single submitter Inborn genetic diseases germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg) AND Progressive myoclonic epilepsy ClinVar Detail
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg) AND not provided ClinVar Detail
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg) AND Lafora disease ClinVar Detail
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg) AND Inborn genetic diseases 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
rs374826256 dbSNP
Genome
hg19
Position
chr6:146,056,400-146,056,400
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
1074
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
17754
Allele Counts in All Race (ExAC)
4
Heterozygous Counts in All Race (ExAC)
4
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.2530134054297624E-4
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