chr9:6556173:C>G Detail (hg38) (GLDC)

Information

Genome

Assembly Position
hg19 chr9:6,556,173-6,556,173 View the variant detail on this assembly version.
hg38 chr9:6,556,173-6,556,173

HGVS

Type Transcript Protein
RefSeq NM_000170.2:c.2182G>C NP_000161.2:p.Gly728Arg
Ensemble ENST00000321612.8:c.2182G>C ENST00000321612.8:p.Gly728Arg
ENST00000638661.1:c.382G>C ENST00000638661.1:p.Gly128Arg
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 238300 OMIM
HGNC 4313 HGNC
Ensembl ENSG00000178445 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 unknown MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic no assertion criteria provided Non-ketotic hyperglycinemia not provided Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.375 Nonketotic Hyperglycinemia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000170.3(GLDC):c.2182G>C (p.Gly728Arg) AND Non-ketotic hyperglycinemia 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
rs386833542 dbSNP
Genome
hg38
Position
chr9:6,556,173-6,556,173
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser