chr19:41352804:A>G Detail (hg38) (TGFB1, TMEM91, LOC130064510)

Information

Genome

Assembly Position
hg19 chr19:41,858,709-41,858,709 View the variant detail on this assembly version.
hg38 chr19:41,352,804-41,352,804

HGVS

Type Transcript Protein
RefSeq NM_000660.5:c.241T>C NP_000651.3:p.Tyr81His
Ensemble ENST00000221930.6:c.241T>C ENST00000221930.6:p.Tyr81His
ENST00000600196.2:c.241T>C ENST00000600196.2:p.Tyr81His
Type Transcript Protein
RefSeq
Ensemble ENST00000539627.5:c.-30+1602A>G
Summary

MGeND

Clinical significance
Variant entry
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
Type Database ID Link
Gene MIM 618294 OMIM
HGNC 32393 HGNC
Ensembl ENSG00000142046 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
Pathogenic 2000-11-01 no assertion criteria provided Diaphyseal dysplasia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.490 Camurati-Engelmann Syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000660.7(TGFB1):c.241T>C (p.Tyr81His) AND Diaphyseal dysplasia ClinVar Detail
NA 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
rs111033611 dbSNP
Genome
hg38
Position
chr19:41,352,804-41,352,804
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser