chr16:31501850:T>C Detail (hg19) (SLC5A2, RUSF1)

Information

Genome

Assembly Position
hg19 chr16:31,501,850-31,501,850
hg38 chr16:31,490,529-31,490,529 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_022744.3:c.*306A>G
Ensemble ENST00000567994.5:c.*306A>G
ENST00000327237.7:c.*306A>G
Type Transcript Protein
RefSeq NM_003041.3:c.2013T>C NP_003032.1:p.Tyr671=
Ensemble ENST00000330498.4:c.2013T>C ENST00000330498.4:p.Tyr671=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM
HGNC 25848 HGNC
Ensembl ENSG00000140688 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 182381 OMIM
HGNC 11037 HGNC
Ensembl ENSG00000140675 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
Uncertain significance 2018-01-13 criteria provided, single submitter Familial renal glucosuria germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_003041.4(SLC5A2):c.2013T>C (p.Tyr671=) AND Familial renal glucosuria 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
rs2082556858 dbSNP
Genome
hg19
Position
chr16:31,501,850-31,501,850
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser