chr11:104877927:T>G Detail (hg19) (CASP5)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr11:104,877,927-104,877,927
hg38	chr11:105,007,200-105,007,200 View the variant detail on this assembly version.

HGVS

CASP5

Type	Transcript	Protein
RefSeq	NM_001136112.1:c.355A>C	NP_001129584.1:p.Thr119Pro
	NM_004347.3:c.355A>C	NP_004338.3:p.Thr119Pro
	NM_001136110.1:c.8-3817A>C
	NR_036562.1:c.8-3817A>C
	NM_001136109.1:c.142A>C	NP_001129581.1:p.Thr48Pro
	NR_024239.1:c.142A>C
Ensemble	ENST00000260315.8:c.316A>C	ENST00000260315.8:p.Thr106Pro
	ENST00000393141.6:c.355A>C	ENST00000393141.6:p.Thr119Pro
	ENST00000526056.5:c.355A>C	ENST00000526056.5:p.Thr119Pro
	ENST00000418434.5:c.8-3817A>C
	ENST00000444749.6:c.142A>C	ENST00000444749.6:p.Thr48Pro
	ENST00000531367.5:c.8-3817A>C

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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Links

CASP5

Type	Database	ID	Link
Gene	MIM	602665	OMIM
	HGNC	1506	HGNC
	Ensembl	ENSG00000137757	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
0.002	Carcinoma of lung	Meta-analysis results showed positive associations between heterozygote (A/G) of...	BeFree	23315881	Detail
0.014	Malignant neoplasm of lung	Meta-analysis results showed positive associations between heterozygote (A/G) of...	BeFree	23315881	Detail

Annotation

Annotations

Descrption	Source	Links
Meta-analysis results showed positive associations between heterozygote (A/G) of rs507879 in the CAS...	DisGeNET	Detail
Meta-analysis results showed positive associations between heterozygote (A/G) of rs507879 in the CAS...	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: rs507879 dbSNP
Genome: hg19
Position: chr11:104,877,927-104,877,927
Variant Type: snv
Reference Allele: T
Alternative Allele: G

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