ClinVar

NM_182919.4(TICAM1):c.1857A>G (p.Pro619=)

Gene:

TICAM1:TIR domain containing adaptor molecule 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 4816521 (on Assembly GRCh38)
• Chr19: 4816533 (on Assembly GRCh37)

Preferred name:

NM_182919.4(TICAM1):c.1857A>G (p.Pro619=)

HGVS:

• NC_000019.10:g.4816521T>C
• NG_031998.1:g.20222A>G
• NM_001385678.1:c.1815A>G
• NM_001385679.1:c.1722A>G
• NM_001385680.1:c.1215A>G
• NM_182919.4:c.1857A>GMANE SELECT
• NP_001372607.1:p.Pro605=
• NP_001372608.1:p.Pro574=
• NP_001372609.1:p.Pro405=
• NP_891549.1:p.Pro619=
• NP_891549.1:p.Pro619=
• LRG_358t1:c.1857A>G
• LRG_358:g.20222A>G
• LRG_358p1:p.Pro619=
• NC_000019.9:g.4816533T>C
• NM_182919.3:c.1857A>G

This HGVS expression did not pass validation

Molecular consequence:

• NM_001385678.1:c.1815A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385679.1:c.1722A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385680.1:c.1215A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_182919.4:c.1857A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1