chr9:34649029:G>T Detail (hg19) (GALT)

Information

Genome

Assembly Position
hg19 chr9:34,649,029-34,649,029
hg38 chr9:34,649,032-34,649,032 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000155.3:c.855G>T NP_000146.2:p.Lys285Asn
NM_001258332.1:c.528G>T NP_001245261.1:p.Lys176Asn
Ensemble ENST00000378842.8:c.855G>T ENST00000378842.8:p.Lys285Asn
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase unknown germline Detail
Pathogenic 2021-06-09 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2017-03-17 no assertion criteria provided galactosemia 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
0.003 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.855G>T (p.Lys285Asn) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltra... ClinVar Detail
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) AND not provided ClinVar Detail
NM_000155.4(GALT):c.855G>T (p.Lys285Asn) AND Galactosemia ClinVar 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
rs111033773 dbSNP
Genome
hg19
Position
chr9:34,649,029-34,649,029
Variant Type
snv
Reference Allele
G
Alternative Allele
T
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)
121410
Allele Counts in All Race (ExAC)
16
Heterozygous Counts in All Race (ExAC)
16
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.3178486121406805E-4
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