chrX:70443861:G>T Detail (hg19) (GJB1)

Information

Genome

Assembly Position
hg19 chrX:70,443,861-70,443,861
hg38 chrX:71,224,011-71,224,011 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000166.5:c.304G>T NP_000157.1:p.Glu102Ter
Ensemble ENST00000361726.7:c.304G>T ENST00000361726.7:p.Glu102Ter
ENST00000374029.2:c.304G>T ENST00000374029.2:p.Glu102Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 304040 OMIM
HGNC 4283 HGNC
Ensembl ENSG00000169562 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
Conflicting interpretations of pathogenicity 2016-01-06 no assertion criteria provided Charcot-Marie-Tooth disease X-linked dominant 1 germline Detail
Uncertain significance no assertion criteria provided Charcot-Marie-Tooth disease germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000166.6(GJB1):c.304G>T (p.Glu102Ter) AND Charcot-Marie-Tooth disease X-linked dominant 1 ClinVar Detail
NM_000166.6(GJB1):c.304G>T (p.Glu102Ter) AND Charcot-Marie-Tooth disease 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
rs1602349143 dbSNP
Genome
hg19
Position
chrX:70,443,861-70,443,861
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Genome browser