chrX:77286938:ACGGA>NNNN Detail (hg19) (ATP7A, PGK1)

Information

Genome

Assembly Position
hg19 chrX:77,286,938-77,286,942
hg38 chrX:78,031,440-78,031,444 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000052.6:c.3152_3156delinsNNNN NP_000043.4:p.His1051?fsTer6
NM_001282224.1:c.3182_3186delinsNNNN NP_001269153.1:p.His1061?fsTer6
Ensemble ENST00000341514.11:c.3152_3156delinsNNNN ENST00000341514.11:p.His1051?fsTer6
Type Transcript Protein
RefSeq
Ensemble ENST00000644362.1:c.-19-78426_-19-78422delinsNNNN
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.606 Menkes Kinky Hair Syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
rs797045371 dbSNP
Genome
hg19
Position
chrX:77,286,938-77,286,942
Variant Type
snv
Reference Allele
ACGGA
Alternative Allele
NNNN
Genome browser