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

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

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
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
Show details
Links
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

DescrptionSourceLinks
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
Genome browser