chr9:34647923:G>A Detail (hg38) (GALT)

Information

Genome

Assembly Position
hg19 chr9:34,647,920-34,647,920 View the variant detail on this assembly version.
hg38 chr9:34,647,923-34,647,923

HGVS

Type Transcript Protein
RefSeq NM_000155.3:c.469G>A NP_000146.2:p.Val157Ile
NM_001258332.1:c.142G>A NP_001245261.1:p.Val48Ile
Ensemble ENST00000378842.8:c.469G>A ENST00000378842.8:p.Val157Ile
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 606999 OMIM
HGNC 4135 HGNC
Ensembl ENSG00000213930 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
Uncertain significance 2021-03-23 criteria provided, single submitter not provided germline Detail
Pathogenic 2022-08-19 criteria provided, single submitter Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase germline Detail
Uncertain significance 2022-08-08 criteria provided, single submitter not specified germline Detail
Uncertain significance 2023-11-19 criteria provided, single submitter Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000155.4(GALT):c.469G>A (p.Val157Ile) AND not provided ClinVar Detail
NM_000155.4(GALT):c.[413C>T;469G>A] AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransfer... ClinVar Detail
NM_000155.4(GALT):c.469G>A (p.Val157Ile) AND not specified ClinVar Detail
NM_000155.4(GALT):c.469G>A (p.Val157Ile) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltra... 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
rs1173928130 dbSNP
Genome
hg38
Position
chr9:34,647,923-34,647,923
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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