chr2:166280508:A>T Detail (hg38) (SCN9A, SCN1A-AS1)

Information

Genome

Assembly Position
hg19 chr2:167,137,018-167,137,018 View the variant detail on this assembly version.
hg38 chr2:166,280,508-166,280,508

HGVS

Type Transcript Protein
RefSeq NM_002977.3:c.2159T>A NP_002968.1:p.Ile720Lys
Ensemble ENST00000303354.11:c.2192T>A ENST00000303354.11:p.Ile731Lys
ENST00000409672.5:c.2159T>A ENST00000409672.5:p.Ile720Lys
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 603415 OMIM
HGNC 10597 HGNC
Ensembl ENSG00000169432 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv312808889 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2016-06-14 criteria provided, single submitter Small fiber neuropathy germline Detail
Conflicting interpretations of pathogenicity 2022-05-04 criteria provided, conflicting interpretations not specified germline Detail
Conflicting interpretations of pathogenicity 2023-01-05 criteria provided, conflicting interpretations Primary erythromelalgia germline Detail
Conflicting interpretations of pathogenicity 2024-03-26 criteria provided, conflicting interpretations Channelopathy-associated congenital insensitivity to pain, autosomal recessive germline unknown Detail
Likely benign 2017-04-28 criteria provided, single submitter paroxysmal extreme pain disorder germline Detail
Likely benign 2024-01-30 criteria provided, single submitter Neuropathy, hereditary sensory and autonomic, type 2A,Generalized epilepsy with febrile seizures plus, type 7 germline Detail
Likely benign 2024-01-30 criteria provided, single submitter Neuropathy, hereditary sensory and autonomic, type 2A,Generalized epilepsy with febrile seizures plus, type 7 germline Detail
Uncertain significance 2023-06-12 criteria provided, multiple submitters, no conflicts not provided germline Detail
Uncertain significance 2021-11-29 criteria provided, single submitter Inborn genetic diseases germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) AND Small fiber neuropathy ClinVar Detail
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) AND not specified ClinVar Detail
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) AND Primary erythromelalgia ClinVar Detail
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) AND Channelopathy-associated congenital insensitivity ... ClinVar Detail
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) AND Paroxysmal extreme pain disorder ClinVar Detail
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) AND multiple conditions ClinVar Detail
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) AND multiple conditions ClinVar Detail
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) AND not provided ClinVar Detail
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) 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
rs200945460 dbSNP
Genome
hg38
Position
chr2:166,280,508-166,280,508
Variant Type
snv
Reference Allele
A
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
3238
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)
43708
Allele Counts in All Race (ExAC)
8
Heterozygous Counts in All Race (ExAC)
8
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.8303285439736432E-4
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