chr21:43071984:C>T Detail (hg38) (CBS)

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

Genome

Assembly	Position
hg19	chr21:44,492,094-44,492,094 View the variant detail on this assembly version.
hg38	chr21:43,071,984-43,071,984

HGVS

CBS

Type	Transcript	Protein
RefSeq	NM_001178008.2:c.209+1G>A
	NM_001320298.1:c.209+1G>A
	NM_001178009.2:c.209+1G>A
	NM_000071.2:c.209+1G>A
Ensemble	ENST00000352178.9:c.209+1G>A
	ENST00000359624.7:c.209+1G>A
	ENST00000398158.5:c.209+1G>A
	ENST00000398165.8:c.209+1G>A

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
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Links

CBS

Type	Database	ID	Link
Gene	MIM	613381	OMIM
	HGNC	1550	HGNC
	Ensembl	ENSG00000160200	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM4754101	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2018-09-10	criteria provided, single submitter	homocystinuria	germline	Detail
Pathogenic	2023-01-15	criteria provided, multiple submitters, no conflicts	Classic homocystinuria	germline unknown	Detail
Pathogenic	2023-03-31	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-09-05	criteria provided, single submitter	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	germline	Detail
Likely pathogenic	2023-03-06	criteria provided, single submitter	CBS-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000071.3(CBS):c.209+1G>A AND Homocystinuria	ClinVar	Detail
NM_000071.3(CBS):c.209+1G>A AND Classic homocystinuria	ClinVar	Detail
NM_000071.3(CBS):c.209+1G>A AND not provided	ClinVar	Detail
NM_000071.3(CBS):c.209+1G>A AND HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	ClinVar	Detail
NM_000071.3(CBS):c.209+1G>A AND CBS-related disorder	ClinVar	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs751464024 dbSNP
Genome: hg38
Position: chr21:43,071,984-43,071,984
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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