chr22:30623057:G>C Detail (hg38) (TCN2)

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

Genome

Assembly	Position
hg19	chr22:31,019,044-31,019,044 View the variant detail on this assembly version.
hg38	chr22:30,623,057-30,623,057

HGVS

TCN2

Type	Transcript	Protein
RefSeq	NM_000355.3:c.1196G>C	NP_000346.2:p.Arg399Pro
	NM_001184726.1:c.1115G>C	NP_001171655.1:p.Arg372Pro
Ensemble	ENST00000215838.8:c.1196G>C	ENST00000215838.8:p.Arg399Pro
	ENST00000405742.7:c.1184G>C	ENST00000405742.7:p.Arg395Pro
	ENST00000407817.3:c.1115G>C	ENST00000407817.3:p.Arg372Pro
	ENST00000450638.5:c.1121G>C	ENST00000450638.5:p.Arg374Pro
	ENST00000698263.1:c.1107-3403G>C
	ENST00000698265.1:c.1181G>C	ENST00000698265.1:p.Arg394Pro
	ENST00000698266.1:c.1196G>C	ENST00000698266.1:p.Arg399Pro
	ENST00000698268.1:c.1223G>C	ENST00000698268.1:p.Arg408Pro
	ENST00000698270.1:c.1043G>C	ENST00000698270.1:p.Arg348Pro
	ENST00000698271.1:c.1226G>C	ENST00000698271.1:p.Arg409Pro
	ENST00000698272.1:c.1187G>C	ENST00000698272.1:p.Arg396Pro
	ENST00000698273.1:c.1187G>C	ENST00000698273.1:p.Arg396Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
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Links

TCN2

Type	Database	ID	Link
Gene	MIM	613441	OMIM
	HGNC	11653	HGNC
	Ensembl	ENSG00000185339	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	2020-08-26	criteria provided, single submitter	transcobalamin II deficiency	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Cardiovascular Diseases	We examined five sequence variants, i.e., I23V, G94S, P259R, S348F, and R399Q, i...	BeFree	12194912	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000355.4(TCN2):c.1196G>C (p.Arg399Pro) AND Transcobalamin II deficiency	ClinVar	Detail
We examined five sequence variants, i.e., I23V, G94S, P259R, S348F, and R399Q, in the TC gene as pos...	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: rs4820889 dbSNP
Genome: hg38
Position: chr22:30,623,057-30,623,057
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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