SNAPC5 c.*213C>T Detail (hg19) (SNAPC5, MAP2K1)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr15:66,782,864-66,782,864
hg38	chr15:66,490,526-66,490,526

HGVS

MAP2K1
SNAPC5

Type	Transcript	Protein
RefSeq	NM_002755.3:c.1093G>A	NP_002746.1:p.Asp365Asn
Ensemble	ENST00000566326.1:c.565G>A	ENST00000566326.1:p.Asp189Asn
	ENST00000307102.10:c.1093G>A	ENST00000307102.10:p.Asp365Asn
	ENST00000685172.1:c.1047G>A	ENST00000685172.1:p.Leu349=
	ENST00000691937.1:c.*74G>A
	ENST00000691576.1:c.964G>A	ENST00000691576.1:p.Asp322Asn
	ENST00000686347.1:c.766G>A	ENST00000686347.1:p.Asp256Asn
	ENST00000689951.1:c.1144G>A	ENST00000689951.1:p.Asp382Asn
	ENST00000685763.1:c.946G>A	ENST00000685763.1:p.Asp316Asn
	ENST00000692683.1:c.1027G>A	ENST00000692683.1:p.Asp343Asn
	ENST00000693150.1:c.949G>A	ENST00000693150.1:p.Asp317Asn

Type	Transcript	Protein
RefSeq	NM_006049.2:c.*213C>T
Ensemble	ENST00000563480.6:c.*213C>T
	ENST00000395589.6:c.*213C>T

Summary

MGeND

Clinical significance	not provided
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

MAP2K1
SNAPC5

Type	Database	ID	Link
Gene	MIM	176872	OMIM
	HGNC	6840	HGNC
	Ensembl	ENSG00000169032	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Type	Database	ID	Link
Gene	MIM	605979	OMIM
	HGNC	15484	HGNC
	Ensembl	ENSG00000174446	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		bronchus or lung, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

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: -
Genome: hg19
Position: chr15:66,782,864-66,782,864
Variant Type: snv
Reference Allele: G
Alternative Allele: A

Genome browser