chrX:154532674:C>G Detail (hg38) (G6PD)

Information

Genome

Assembly Position
hg19 chrX:153,760,889-153,760,889 View the variant detail on this assembly version.
hg38 chrX:154,532,674-154,532,674

HGVS

Type Transcript Protein
RefSeq NM_000402.4:c.1180G>C NP_000393.4:p.Val394Leu
NM_001042351.2:c.1180G>C NP_001035810.1:p.Val394Leu
Ensemble ENST00000369620.6:c.1318G>C ENST00000369620.6:p.Val440Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 305900 OMIM
HGNC 4057 HGNC
Ensembl ENSG00000160211 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
other 2017-05-24 no assertion criteria provided germline Detail
Likely pathogenic 2022-08-12 criteria provided, single submitter Anemia, nonspherocytic hemolytic, due to G6PD deficiency germline unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 Anemia, nonspherocytic hemolytic, due to G6PD deficiency NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000402.4(G6PD):c.1270G>C (p.Val424Leu) AND G6PD ALHAMBRA ClinVar Detail
NM_000402.4(G6PD):c.1270G>C (p.Val424Leu) AND Anemia, nonspherocytic hemolytic, due to G6PD deficien... 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
rs137852335 dbSNP
Genome
hg38
Position
chrX:154,532,674-154,532,674
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser