chr9:34649442:A>G Detail (hg19) (GALT)

Information

Genome

Assembly Position
hg19 chr9:34,649,442-34,649,442
hg38 chr9:34,649,445-34,649,445 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000155.3:c.940A>G NP_000146.2:p.Asn314Asp
NM_001258332.1:c.613A>G NP_001245261.1:p.Asn205Asp
Ensemble ENST00000378842.8:c.940A>G ENST00000378842.8:p.Asn314Asp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.007
ToMMo:0.004
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.008

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity; 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 tgv36082982 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 (DUARTE, D2) germline Detail
Benign 2009-05-01 no assertion criteria provided GALT POLYMORPHISM (LOS ANGELES, D1) germline Detail
Conflicting interpretations of pathogenicity 2024-02-01 criteria provided, conflicting interpretations Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase germline unknown Detail
Conflicting interpretations of pathogenicity; other 2024-04-01 criteria provided, conflicting interpretations not provided germline unknown Detail
Pathogenic 2021-03-09 no assertion criteria provided Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase germline Detail
Likely benign 2016-06-14 criteria provided, single submitter galactosemia germline Detail
Benign 2021-03-09 no assertion criteria provided Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase germline Detail
Pathogenic 2021-11-17 criteria provided, single submitter not provided germline Detail
Uncertain significance 2023-04-06 criteria provided, single submitter not specified germline Detail
Likely benign 2019-06-21 criteria provided, single submitter GALT-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.153 Galactosemias The functionally neutral N314D variation in the GALT gene is associated with Dua... BeFree 22963887 Detail
<0.001 Rokitansky Kuster Hauser syndrome Vaginal agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome) associated with the N... BeFree 9238673 Detail
0.002 ovarian carcinoma The N314D polymorphism of galactose-1-phosphate uridyl transferase does not modi... BeFree 12869412 Detail
0.153 Galactosemias Six out of thirteen (46%) daughters and two mothers of the remaining seven daugh... BeFree 9238673 Detail
0.375 Classical galactosemia In silico analysis (SIFT, PolyPhen-2 and the computational analysis on the stati... UNIPROT 25592817 Detail
0.375 Classical galactosemia We conclude that the codon change N314D in cis with the base-pair transition 172... BeFree 9012409 Detail
0.009 endometriosis Absence of a relationship between endometriosis and the N314D polymorphism of ga... BeFree 10508229 Detail
0.004 Malignant neoplasm of ovary The N314D polymorphism of galactose-1-phosphate uridyl transferase does not modi... BeFree 12869412 Detail
0.009 endometriosis Endometriosis associated with the N314D mutation of galactose-1-phosphate uridyl... BeFree 9238674 Detail
0.153 Galactosemias We conclude that the codon change N314D in cis with the base-pair transition 172... BeFree 9012409 Detail
0.375 Classical galactosemia The functionally neutral N314D variation in the GALT gene is associated with Dua... BeFree 22963887 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
0.375 Classical galactosemia We characterized two novel mutations of the galactose-1-phosphate uridyltransfer... BeFree 7550229 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) AND GALT POLYMORPHISM (DUARTE, D2) ClinVar Detail
NM_000155.3(GALT):c.[652C>T;c.940A>G] AND GALT POLYMORPHISM (LOS ANGELES, D1) ClinVar Detail
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltra... ClinVar Detail
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) AND not provided ClinVar Detail
NM_000155.2(GALT):c.[940A>G;-119_-116delGTCA] AND Deficiency of UDPglucose-hexose-1-phosphate uridyl... ClinVar Detail
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) AND Galactosemia ClinVar Detail
NM_000155.3(GALT):c.[652C>T;c.940A>G] AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransf... ClinVar Detail
NM_000155.2(GALT):c.[940A>G;-119_-116delGTCA] AND not provided ClinVar Detail
NM_000155.2(GALT):c.[940A>G;-119_-116delGTCA] AND not specified ClinVar Detail
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) AND GALT-related disorder ClinVar Detail
The functionally neutral N314D variation in the GALT gene is associated with Duarte galactosemia and... DisGeNET Detail
Vaginal agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome) associated with the N314D mutation of gal... DisGeNET Detail
The N314D polymorphism of galactose-1-phosphate uridyl transferase does not modify the risk of ovari... DisGeNET Detail
Six out of thirteen (46%) daughters and two mothers of the remaining seven daughters (29%) were carr... DisGeNET Detail
In silico analysis (SIFT, PolyPhen-2 and the computational analysis on the static protein structure)... DisGeNET Detail
We conclude that the codon change N314D in cis with the base-pair transition 1721C--&gt;T produces t... DisGeNET Detail
Absence of a relationship between endometriosis and the N314D polymorphism of galactose-1-phosphate ... DisGeNET Detail
The N314D polymorphism of galactose-1-phosphate uridyl transferase does not modify the risk of ovari... DisGeNET Detail
Endometriosis associated with the N314D mutation of galactose-1-phosphate uridyl transferase (GALT). DisGeNET Detail
We conclude that the codon change N314D in cis with the base-pair transition 1721C--&gt;T produces t... DisGeNET Detail
The functionally neutral N314D variation in the GALT gene is associated with Duarte galactosemia and... 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
We characterized two novel mutations of the galactose-1-phosphate uridyltransferase (GALT) gene in t... 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
rs2070074 dbSNP
Genome
hg19
Position
chr9:34,649,442-34,649,442
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1209
Mean of sample read depth (HGVD)
94.31
Standard deviation of sample read depth (HGVD)
46.53
Number of reference allele (HGVD)
2401
Number of alternative allele (HGVD)
17
Allele Frequency (HGVD)
0.007030603804797354
Gene Symbol (HGVD)
GALT
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs2070074
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0037
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
62
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
66
East Asian Heterozygous Counts (ExAC)
66
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.007626531083891842
Chromosome Counts in All Race (ExAC)
121390
Allele Counts in All Race (ExAC)
11169
Heterozygous Counts in All Race (ExAC)
9785
Homozygous Counts in All Race (ExAC)
692
Allele Frequency in All Race (ExAC)
0.09200922646016971
Genome browser