chr9:34647855:C>G Detail (hg19) (GALT)

Information

Genome

Assembly Position
hg19 chr9:34,647,855-34,647,855
hg38 chr9:34,647,858-34,647,858 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000155.3:c.404C>G NP_000146.2:p.Ser135Trp
NM_001258332.1:c.77C>G NP_001245261.1:p.Ser26Trp
Ensemble ENST00000378842.8:c.404C>G ENST00000378842.8:p.Ser135Trp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
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
Pathogenic Likely pathogenic 2023-10-13 criteria provided, multiple submitters, no conflicts Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase germline unknown Detail
Likely pathogenic no assertion criteria provided not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.375 Classical galactosemia NA CLINVAR Detail
0.375 Classical galactosemia Samples (n = 243) submitted for confirmatory testing for classical galactosaemia... BeFree 17876724 Detail
0.153 Galactosemias Biochemical characterization of the S135L allele of galactose-1-phosphate uridyl... BeFree 9323558 Detail
0.375 Classical galactosemia Whereas classic galactosemia has been hypothesized to result from GALT misfoldin... UNIPROT 25614870 Detail
0.153 Galactosemias The S135L mutation in the GALT gene is a prevalent cause of galactosemia among b... BeFree 8551426 Detail
0.375 Classical galactosemia This mutation was common in black patients with galactosemia and homozygotes (S1... BeFree 11592823 Detail
0.153 Galactosemias This mutation was common in black patients with galactosemia and homozygotes (S1... BeFree 11592823 Detail
0.375 Classical galactosemia The S135L mutation in the GALT gene is a prevalent cause of galactosemia among b... BeFree 8551426 Detail
<0.001 Malnutrition The correlation of protein content data with activity levels in the blood cells ... BeFree 9202622 Detail
0.375 Classical galactosemia Classical galactosemia is an autosomal recessive disorder of galactose metabolis... UNIPROT 15841485 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000155.4(GALT):c.404C>G (p.Ser135Trp) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltra... ClinVar Detail
NM_000155.4(GALT):c.404C>G (p.Ser135Trp) AND not provided ClinVar Detail
NA DisGeNET Detail
Samples (n = 243) submitted for confirmatory testing for classical galactosaemia were analysed simul... DisGeNET Detail
Biochemical characterization of the S135L allele of galactose-1-phosphate uridylyltransferase associ... DisGeNET Detail
Whereas classic galactosemia has been hypothesized to result from GALT misfolding, a thorough functi... DisGeNET Detail
The S135L mutation in the GALT gene is a prevalent cause of galactosemia among black patients. DisGeNET Detail
This mutation was common in black patients with galactosemia and homozygotes (S135L/S135L) had no GA... DisGeNET Detail
This mutation was common in black patients with galactosemia and homozygotes (S135L/S135L) had no GA... DisGeNET Detail
The S135L mutation in the GALT gene is a prevalent cause of galactosemia among black patients. DisGeNET Detail
The correlation of protein content data with activity levels in the blood cells suggests that the S1... DisGeNET Detail
Classical galactosemia is an autosomal recessive disorder of galactose metabolism due to galactose-1... 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
rs111033690 dbSNP
Genome
hg19
Position
chr9:34,647,855-34,647,855
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser