chr9:34648421:C>T Detail (hg38) (GALT)

Information

Genome

Assembly Position
hg19 chr9:34,648,418-34,648,418 View the variant detail on this assembly version.
hg38 chr9:34,648,421-34,648,421

HGVS

Type Transcript Protein
RefSeq NM_000155.3:c.652C>T NP_000146.2:p.Leu218=
NM_001258332.1:c.325C>T NP_001245261.1:p.Leu109=
Ensemble ENST00000378842.8:c.652C>T ENST00000378842.8:p.Leu218=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.002
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Benign; other
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 tgv36082815 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2009-05-01 no assertion criteria provided GALT POLYMORPHISM (LOS ANGELES, D1) germline Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase germline unknown Detail
Benign; other 2021-07-15 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2021-03-09 no assertion criteria provided Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase germline Detail
Benign no assertion criteria provided not specified germline Detail
Likely benign 2017-03-29 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
Annotation

Annotations

DescrptionSourceLinks
NM_000155.3(GALT):c.[652C>T;c.940A>G] AND GALT POLYMORPHISM (LOS ANGELES, D1) ClinVar Detail
NM_000155.4(GALT):c.652C>T (p.Leu218=) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltrans... ClinVar Detail
NM_000155.4(GALT):c.652C>T (p.Leu218=) AND not provided ClinVar Detail
NM_000155.3(GALT):c.[652C>T;c.940A>G] AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransf... ClinVar Detail
NM_000155.4(GALT):c.652C>T (p.Leu218=) AND not specified ClinVar Detail
NM_000155.4(GALT):c.652C>T (p.Leu218=) AND Galactosemia 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
rs2070075 dbSNP
Genome
hg38
Position
chr9:34,648,421-34,648,421
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1209
Mean of sample read depth (HGVD)
76.02
Standard deviation of sample read depth (HGVD)
37.92
Number of reference allele (HGVD)
2414
Number of alternative allele (HGVD)
4
Allele Frequency (HGVD)
0.0016542597187758478
Gene Symbol (HGVD)
GALT
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
4
East Asian Heterozygous Counts (ExAC)
4
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
4.6221400508435407E-4
Chromosome Counts in All Race (ExAC)
121352
Allele Counts in All Race (ExAC)
4650
Heterozygous Counts in All Race (ExAC)
4298
Homozygous Counts in All Race (ExAC)
176
Allele Frequency in All Race (ExAC)
0.03831828070406751
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