chr17:37733616:G>A Detail (hg38) (HNF1B, LOC126862549)

Information

Genome

Assembly Position
hg19 chr17:36,093,609-36,093,609 View the variant detail on this assembly version.
hg38 chr17:37,733,616-37,733,616

HGVS

Type Transcript Protein
RefSeq NM_001304286.1:c.672C>T NP_001291215.1:p.Tyr224=
NM_000458.3:c.750C>T NP_000449.1:p.Tyr250=
NM_001165923.3:c.750C>T NP_001159395.1:p.Tyr250=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 189907 OMIM
HGNC 11630 HGNC
Ensembl ENSG00000275410 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv57657322 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2011-08-18 criteria provided, single submitter Renal cysts and diabetes syndrome germline Detail
Likely benign criteria provided, single submitter not specified germline Detail
Conflicting interpretations of pathogenicity 2023-12-02 criteria provided, conflicting interpretations not provided germline Detail
Uncertain significance criteria provided, single submitter Maturity onset diabetes mellitus in young unknown Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=) AND Renal cysts and diabetes syndrome ClinVar Detail
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=) AND not specified ClinVar Detail
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=) AND not provided ClinVar Detail
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=) AND Maturity onset diabetes mellitus in young ClinVar 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
rs144249535 dbSNP
Genome
hg38
Position
chr17:37,733,616-37,733,616
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs144249535
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
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)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1555350127108852E-4
Chromosome Counts in All Race (ExAC)
121412
Allele Counts in All Race (ExAC)
12
Heterozygous Counts in All Race (ExAC)
12
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
9.883701775771753E-5
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