chrX:77245343:C>T Detail (hg19) (ATP7A, PGK1)

Information

Genome

Assembly Position
hg19 chrX:77,245,343-77,245,343
hg38 chrX:77,989,847-77,989,847 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000052.6:c.1225C>T NP_000043.4:p.Arg409Ter
NM_001282224.1:c.1255C>T NP_001269153.1:p.Arg419Ter
Ensemble ENST00000341514.11:c.1225C>T ENST00000341514.11:p.Arg409Ter
Type Transcript Protein
RefSeq
Ensemble ENST00000644362.1:c.-20+79011C>T
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 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
Conflicting interpretations of pathogenicity 2024-03-26 criteria provided, conflicting interpretations Menkes kinky-hair syndrome germline Detail
Pathogenic 2021-12-02 criteria provided, single submitter Cutis laxa, X-linked,Menkes kinky-hair syndrome,X-linked distal spinal muscular atrophy type 3 germline Detail
Pathogenic 2021-12-02 criteria provided, single submitter Cutis laxa, X-linked,Menkes kinky-hair syndrome,X-linked distal spinal muscular atrophy type 3 germline Detail
Pathogenic 2021-12-02 criteria provided, single submitter Cutis laxa, X-linked,Menkes kinky-hair syndrome,X-linked distal spinal muscular atrophy type 3 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.1225C>T (p.Arg409Ter) AND Menkes kinky-hair syndrome ClinVar Detail
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter) AND multiple conditions ClinVar Detail
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter) AND multiple conditions ClinVar Detail
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter) AND multiple conditions 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
rs72554636 dbSNP
Genome
hg19
Position
chrX:77,245,343-77,245,343
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser