chr9:34647867:C>T Detail (hg38) (GALT)

Information

Genome

Assembly Position
hg19 chr9:34,647,864-34,647,864 View the variant detail on this assembly version.
hg38 chr9:34,647,867-34,647,867

HGVS

Type Transcript Protein
RefSeq NM_000155.3:c.413C>T NP_000146.2:p.Thr138Met
NM_001258332.1:c.86C>T NP_001245261.1:p.Thr29Met
Ensemble ENST00000378842.8:c.413C>T ENST00000378842.8:p.Thr138Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[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 2023-12-28 criteria provided, multiple submitters, no conflicts Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase germline unknown Detail
Pathogenic 2021-03-23 criteria provided, single submitter not provided germline Detail
Pathogenic 2017-03-17 no assertion criteria provided galactosemia germline Detail
Pathogenic 2022-08-19 criteria provided, single submitter Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 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
Annotation

Annotations

DescrptionSourceLinks
NM_000155.4(GALT):c.413C>T (p.Thr138Met) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltra... ClinVar Detail
NM_000155.4(GALT):c.413C>T (p.Thr138Met) AND not provided ClinVar Detail
NM_000155.4(GALT):c.413C>T (p.Thr138Met) AND Galactosemia ClinVar Detail
NM_000155.4(GALT):c.[413C>T;469G>A] AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransfer... ClinVar Detail
NA DisGeNET Detail
Samples (n = 243) submitted for confirmatory testing for classical galactosaemia were analysed simul... 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
rs111033686 dbSNP
Genome
hg38
Position
chr9:34,647,867-34,647,867
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
195.17
Standard deviation of sample read depth (HGVD)
86.43
Number of reference allele (HGVD)
2419
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.1322314049586776E-4
Gene Symbol (HGVD)
GALT
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