chr19:41848135:G>A Detail (hg19) (TGFB1)

Information

Genome

Assembly Position
hg19 chr19:41,848,135-41,848,135
hg38 chr19:41,342,230-41,342,230 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000660.5:c.652C>T NP_000651.3:p.Arg218Cys
Ensemble ENST00000221930.6:c.652C>T ENST00000221930.6:p.Arg218Cys
ENST00000600196.2:c.652C>T ENST00000600196.2:p.Arg218Cys
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 190180 OMIM
HGNC 11766 HGNC
Ensembl ENSG00000105329 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
Pathogenic other germline MGS000001
(TMGS000137)
Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2019-05-28 criteria provided, multiple submitters, no conflicts Diaphyseal dysplasia germline unknown Detail
Pathogenic 2023-12-09 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2022-12-21 criteria provided, single submitter de novo Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.490 Camurati-Engelmann Syndrome NA CLINVAR Detail
0.490 Camurati-Engelmann Syndrome Genetic analysis of the TGFB1 gene revealed a heterozygous missense mutation p.R... BeFree 23729546 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000660.7(TGFB1):c.652C>T (p.Arg218Cys) AND Diaphyseal dysplasia ClinVar Detail
NM_000660.7(TGFB1):c.652C>T (p.Arg218Cys) AND not provided ClinVar Detail
NM_000660.7(TGFB1):c.652C>T (p.Arg218Cys) AND See cases ClinVar Detail
NA DisGeNET Detail
Genetic analysis of the TGFB1 gene revealed a heterozygous missense mutation p.R218C in exon 4 of ch... 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
rs104894721 dbSNP
Genome
hg19
Position
chr19:41,848,135-41,848,135
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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