chrX:153932073:A>C Detail (hg38) (NAA10)

Information

Genome

Assembly Position
hg19 chrX:153,197,526-153,197,526 View the variant detail on this assembly version.
hg38 chrX:153,932,073-153,932,073

HGVS

Type Transcript Protein
RefSeq NM_001256119.1:c.341+243T>G
NM_001256120.1:c.384T>G NP_001243049.1:p.Phe128Leu
NM_003491.3:c.384T>G NP_003482.1:p.Phe128Leu
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 300013 OMIM
HGNC 18704 HGNC
Ensembl ENSG00000102030 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 2023-02-10 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2017-11-17 criteria provided, multiple submitters, no conflicts Ogden syndrome de novo Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_003491.4(NAA10):c.384T>G (p.Phe128Leu) AND not provided ClinVar Detail
NM_003491.4(NAA10):c.384T>G (p.Phe128Leu) AND Ogden syndrome 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
rs878853263 dbSNP
Genome
hg38
Position
chrX:153,932,073-153,932,073
Variant Type
snv
Reference Allele
A
Alternative Allele
C
Genome browser