ClinVar

NM_182919.4(TICAM1):c.1854G>C (p.Pro618=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 4816524 (on Assembly GRCh38)
• Chr19: 4816536 (on Assembly GRCh37)

Preferred name:

NM_182919.4(TICAM1):c.1854G>C (p.Pro618=)

HGVS:

• NC_000019.10:g.4816524C>G
• NG_031998.1:g.20219G>C
• NM_001385678.1:c.1812G>C
• NM_001385679.1:c.1719G>C
• NM_001385680.1:c.1212G>C
• NM_182919.4:c.1854G>CMANE SELECT
• NP_001372607.1:p.Pro604=
• NP_001372608.1:p.Pro573=
• NP_001372609.1:p.Pro404=
• NP_891549.1:p.Pro618=
• NP_891549.1:p.Pro618=
• LRG_358t1:c.1854G>C
• LRG_358:g.20219G>C
• LRG_358p1:p.Pro618=
• NC_000019.9:g.4816536C>G
• NM_182919.3:c.1854G>C

This HGVS expression did not pass validation

Molecular consequence:

• NM_001385678.1:c.1812G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385679.1:c.1719G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385680.1:c.1212G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_182919.4:c.1854G>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1