chr14:65216769:G>T Detail (hg19) (SPTB, PLEKHG3)

Information

Genome

Assembly Position
hg19 chr14:65,216,769-65,216,769
hg38 chr14:64,750,051-64,750,051 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001308147.1:c.*6348G>T
Ensemble ENST00000247226.13:c.*6348G>T
ENST00000634379.2:c.*6348G>T
Type Transcript Protein
RefSeq NM_001024858.2:c.6706C>A NP_001020029.1:p.Leu2236Met
Ensemble ENST00000644917.1:c.6706C>A ENST00000644917.1:p.Leu2236Met
ENST00000389722.7:c.6706C>A ENST00000389722.7:p.Leu2236Met
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 617940 OMIM
HGNC 20364 HGNC
Ensembl ENSG00000126822 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 182870 OMIM
HGNC 11274 HGNC
Ensembl ENSG00000070182 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 2018-02-27 criteria provided, single submitter Familial hemolytic anemia germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001355436.2(SPTB):c.6706C>A (p.Leu2236Met) AND Familial hemolytic anemia 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
rs1555364746 dbSNP
Genome
hg19
Position
chr14:65,216,769-65,216,769
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Genome browser