chrX:77298823:TCT> Detail (hg19) (ATP7A, PGK1)

Information

Genome

Assembly Position
hg19 chrX:77,298,823-77,298,825
hg38 chrX:78,043,325-78,043,327 

HGVS

Type Transcript Protein
RefSeq NM_001282224.1:c.4044_4046delTCT NP_001269153.1:p.Leu1349del
NM_000052.6:c.4014_4016delTCT NP_000043.4:p.Leu1339del
Ensemble ENST00000343533.10:c.4044_4046delTCT ENST00000343533.10:p.Leu1349del
Type Transcript Protein
RefSeq
Ensemble ENST00000644362.1:c.-19-66541_-19-66539delTCT
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000001
(TMGS000137)
Kenjiro Kosaki Keio University
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
rs797045392 dbSNP
Genome
hg19
Position
chrX:77,298,823-77,298,825
Variant Type
snv
Reference Allele
TCT
Alternative Allele
-
Genome browser