chr9:34648170:A>G Detail (hg38) (GALT)

Information

Genome

Assembly Position
hg19 chr9:34,648,167-34,648,167 View the variant detail on this assembly version.
hg38 chr9:34,648,170-34,648,170

HGVS

Type Transcript Protein
RefSeq NM_000155.3:c.563A>G NP_000146.2:p.Gln188Arg
NM_001258332.1:c.236A>G NP_001245261.1:p.Gln79Arg
Ensemble ENST00000378842.8:c.563A>G ENST00000378842.8:p.Gln188Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance 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 tgv361748979 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-03-17 criteria provided, multiple submitters, no conflicts Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase germline inherited maternal unknown Detail
Pathogenic 2024-04-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2023-11-17 criteria provided, multiple submitters, no conflicts galactosemia germline Detail
Pathogenic 2023-08-31 criteria provided, single submitter GALT-related disorder germline Detail
Pathogenic 2021-10-27 criteria provided, single submitter Inborn genetic diseases germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.375 Classical galactosemia In silico analysis (SIFT, PolyPhen-2 and the computational analysis on the stati... UNIPROT 25592817 Detail
0.375 Classical galactosemia Classical galactosemia is caused by one common missense mutation (Q188R) and by ... BeFree 9222760 Detail
<0.001 Apraxia, Developmental Verbal We conclude that homozygosity for Q188R mutations in the GALT gene is a signific... BeFree 11397328 Detail
0.375 Classical galactosemia Homology modeling studies on human galactose-1-phosphate uridylyltransferase and... BeFree 15689161 Detail
0.153 Galactosemias Homology modeling studies on human galactose-1-phosphate uridylyltransferase and... BeFree 15689161 Detail
0.375 Classical galactosemia NA CLINVAR Detail
0.375 Classical galactosemia Samples (n = 243) submitted for confirmatory testing for classical galactosaemia... BeFree 17876724 Detail
0.003 Presenile cataract A study was undertaken to determine the prevalence of the three most common muta... BeFree 14707519 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltra... ClinVar Detail
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) AND not provided ClinVar Detail
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) AND Galactosemia ClinVar Detail
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) AND GALT-related disorder ClinVar Detail
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) AND Inborn genetic diseases ClinVar Detail
In silico analysis (SIFT, PolyPhen-2 and the computational analysis on the static protein structure)... DisGeNET Detail
Classical galactosemia is caused by one common missense mutation (Q188R) and by several rare mutatio... DisGeNET Detail
We conclude that homozygosity for Q188R mutations in the GALT gene is a significant risk factor for ... DisGeNET Detail
Homology modeling studies on human galactose-1-phosphate uridylyltransferase and on its galactosemia... DisGeNET Detail
Homology modeling studies on human galactose-1-phosphate uridylyltransferase and on its galactosemia... DisGeNET Detail
NA DisGeNET Detail
Samples (n = 243) submitted for confirmatory testing for classical galactosaemia were analysed simul... DisGeNET Detail
A study was undertaken to determine the prevalence of the three most common mutations in the GALT ge... 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
rs75391579 dbSNP
Genome
hg38
Position
chr9:34,648,170-34,648,170
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121392
Allele Counts in All Race (ExAC)
160
Heterozygous Counts in All Race (ExAC)
160
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.0013180440226703571
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