chrX:77289310:C>T Detail (hg19) (ATP7A, PGK1)

Information

Genome

Assembly Position
hg19 chrX:77,289,310-77,289,310
hg38 chrX:78,033,812-78,033,812 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000052.6:c.3502C>T NP_000043.4:p.Gln1168Ter
NM_001282224.1:c.3532C>T NP_001269153.1:p.Gln1178Ter
Ensemble ENST00000341514.11:c.3502C>T ENST00000341514.11:p.Gln1168Ter
Type Transcript Protein
RefSeq
Ensemble ENST00000644362.1:c.-19-76054C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 300011 OMIM
HGNC 869 HGNC
Ensembl ENSG00000165240 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 311800 OMIM
HGNC 8896 HGNC
Ensembl ENSG00000102144 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
Pathogenic 2013-02-08 criteria provided, single submitter Menkes kinky-hair syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.606 Menkes Kinky Hair Syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000052.7(ATP7A):c.3502C>T (p.Gln1168Ter) AND Menkes kinky-hair syndrome ClinVar Detail
NA DisGeNET 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
rs797045379 dbSNP
Genome
hg19
Position
chrX:77,289,310-77,289,310
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser