chr5:147211100:A>G Detail (hg19) (SPINK1)

Information

Genome

Assembly Position
hg19 chr5:147,211,100-147,211,100
hg38 chr5:147,831,537-147,831,537 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003122.4:c.41T>C NP_003113.2:p.Leu14Pro
Ensemble ENST00000296695.10:c.41T>C ENST00000296695.10:p.Leu14Pro
ENST00000510027.2:c.41T>C ENST00000510027.2:p.Leu14Pro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 167790 OMIM
HGNC 11244 HGNC
Ensembl ENSG00000164266 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
Pathogenic 2007-05-01 no assertion criteria provided Hereditary pancreatitis germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.245 Hereditary pancreatitis NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001379610.1(SPINK1):c.41T>C (p.Leu14Pro) AND Hereditary pancreatitis ClinVar Detail
NA 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
rs104893939 dbSNP
Genome
hg19
Position
chr5:147,211,100-147,211,100
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser