Annotation Detail
Information
- Associated Genes
- TPM1
- Associated Variants
-
TPM1 p.Arg21Leu (p.R21L)
(
ENST00000560970.6,
ENST00000267996.11,
ENST00000714017.1,
ENST00000358278.7,
ENST00000561266.6,
ENST00000559556.5,
ENST00000288398.10,
ENST00000403994.9,
ENST00000610733.1,
ENST00000357980.9,
ENST00000559397.6,
ENST00000714014.1,
ENST00000714013.1 )
TPM1 p.Arg21Leu (p.R21L) ( ENST00000267996.11, ENST00000288398.10, ENST00000357980.9, ENST00000358278.7, ENST00000403994.9, ENST00000559397.6, ENST00000559556.5, ENST00000560970.6, ENST00000561266.6, ENST00000610733.1, ENST00000714013.1, ENST00000714014.1, ENST00000714017.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) AND not specified
- ClinVar Allele ID
- 179749
- ClinVar RefSeq Alternation Syntax
- NM_001407335.1:c.62G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407322.1:c.62G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407329.1:c.62G>T
- ClinVar RefSeq Alternation Syntax
- NR_176339.1:n.145G>T
- ClinVar RefSeq Alternation Syntax
- NR_176342.1:n.145G>T
- ClinVar RefSeq Alternation Syntax
- NM_001018020.2:c.62G>T
- ClinVar RefSeq Alternation Syntax
- NM_001365777.1:c.62G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407333.1:c.62G>T
- ClinVar RefSeq Alternation Syntax
- NR_176346.1:n.145G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407327.1:c.62G>T
- ClinVar RefSeq Alternation Syntax
- NM_000366.6:c.62G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407326.1:c.62G>T
- ClinVar RefSeq Alternation Syntax
- NM_001365778.1:c.62G>T
- ClinVar RefSeq Alternation Syntax
- NR_176338.1:n.145G>T
- ClinVar RefSeq Alternation Syntax
- NR_176340.1:n.145G>T
- ClinVar RefSeq Alternation Syntax
- NR_176343.1:n.145G>T
- ClinVar RefSeq Alternation Syntax
- NM_001018006.2:c.62G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407330.1:c.62G>T
- ClinVar RefSeq Alternation Syntax
- NR_176337.1:n.145G>T
- ClinVar RefSeq Alternation Syntax
- NM_001301244.2:c.62G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407332.1:c.62G>T
- ClinVar RefSeq Alternation Syntax
- NR_176347.1:n.145G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407324.1:c.62G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407337.1:c.62G>T
- ClinVar RefSeq Alternation Syntax
- NR_176344.1:n.145G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407336.1:c.62G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407323.1:c.62G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407328.1:c.62G>T
- ClinVar RefSeq Alternation Syntax
- NM_001365776.1:c.62G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407334.1:c.62G>T
- ClinVar RefSeq Alternation Syntax
- NM_001018005.2:c.62G>T
- ClinVar RefSeq Alternation Syntax
- NM_001365779.1:c.62G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407331.1:c.62G>T
- ClinVar RefSeq Alternation Syntax
- NM_001018004.2:c.62G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407325.1:c.62G>T
- ClinVar RefSeq Alternation Syntax
- NR_176345.1:n.145G>T
- ClinVar RefSeq Alternation Syntax
- NM_001407338.1:c.62G>T
- ClinVar RefSeq Alternation Syntax
- NR_176341.1:n.145G>T
- ClinVar RefSeq Alternation Syntax
- NM_001018007.2:c.62G>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-05-04
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002247554
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs