chr13:113118845:G>C Detail (hg38) (F7)

Information

Genome

Assembly Position
hg19 chr13:113,773,159-113,773,159 View the variant detail on this assembly version.
hg38 chr13:113,118,845-113,118,845

HGVS

Type Transcript Protein
RefSeq NM_019616.3:c.1172G>C NP_062562.1:p.Arg391Pro
NM_000131.4:c.1238G>C NP_000122.1:p.Arg413Pro
NM_001267554.1:c.986G>C NP_001254483.1:p.Arg329Pro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 613878 OMIM
HGNC 3544 HGNC
Ensembl ENSG00000057593 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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Cerebrovascular accident Among whites, six SNPs were associated with stroke, with a nominal P-value of &l... BeFree 21114618 Detail
<0.001 Cerebrovascular accident Among whites, six SNPs were associated with stroke, with a nominal P-value of &l... BeFree 21114618 Detail
Annotation

Annotations

DescrptionSourceLinks
Among whites, six SNPs were associated with stroke, with a nominal P-value of &lt; 0.01: rs6046 and ... DisGeNET Detail
Among whites, six SNPs were associated with stroke, with a nominal P-value of &lt; 0.01: rs6046 and ... 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
rs6046 dbSNP
Genome
hg38
Position
chr13:113,118,845-113,118,845
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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