chr1:26142090:G>A Detail (hg19) (SELENON)

Information

Genome

Assembly Position
hg19 chr1:26,142,090-26,142,090
hg38 chr1:25,815,599-25,815,599 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_020451.2:c.1654G>A NP_065184.2:p.Glu552Lys
NM_206926.1:c.1552G>A NP_996809.1:p.Glu518Lys
Ensemble ENST00000361547.7:c.1654G>A ENST00000361547.7:p.Glu552Lys
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 Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 606210 OMIM
HGNC 15999 HGNC
Ensembl ENSG00000162430 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM4143698 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign Likely benign 2024-01-22 criteria provided, multiple submitters, no conflicts Eichsfeld type congenital muscular dystrophy germline Detail
Conflicting interpretations of pathogenicity 2022-04-01 criteria provided, conflicting interpretations not provided germline unknown Detail
Uncertain significance 2017-04-28 criteria provided, single submitter SEPN1-related disorder germline Detail
Uncertain significance 2019-12-13 criteria provided, single submitter Congenital myopathy with fiber type disproportion unknown Detail
Uncertain significance 2023-10-16 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys) AND Eichsfeld type congenital muscular dystrophy ClinVar Detail
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys) AND not provided ClinVar Detail
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys) AND SEPN1-related disorder ClinVar Detail
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys) AND Congenital myopathy with fiber type disproportion ClinVar Detail
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys) AND not specified 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
rs200128474 dbSNP
Genome
hg19
Position
chr1:26,142,090-26,142,090
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8626
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)
120758
Allele Counts in All Race (ExAC)
43
Heterozygous Counts in All Race (ExAC)
43
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.56084068964375E-4
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