ClinVar

NM_000362.5(TIMP3):c.587G>A (p.Arg196Gln)

Genes:

TIMP3:TIMP metallopeptidase inhibitor 3 [Gene - OMIM - HGNC]
SYN3:synapsin III [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.3

Genomic location:

• Chr22: 32859328 (on Assembly GRCh38)
• Chr22: 33255315 (on Assembly GRCh37)

Preferred name:

NM_000362.5(TIMP3):c.587G>A (p.Arg196Gln)

HGVS:

• NC_000022.11:g.32859328G>A
• NG_009117.2:g.62624G>A
• NG_029545.1:g.204063C>T
• NG_029545.2:g.204053C>T
• NM_000362.5:c.587G>AMANE SELECT
• NM_001135774.2:c.708+5587C>T
• NM_001369907.1:c.711+5587C>T
• NM_001369908.1:c.711+5587C>T
• NM_001369909.1:c.708+5587C>T
• NM_001369910.1:c.708+5587C>T
• NM_003490.4:c.711+5587C>TMANE SELECT
• NM_133633.3:c.711+5587C>T
• NP_000353.1:p.Arg196Gln
• NP_000353.1:p.Arg196Gln
• NC_000022.10:g.33255315G>A
• NM_000362.4:c.587G>A

This HGVS expression did not pass validation

Protein change:

R196Q

Links:

dbSNP: rs142288050

NCBI 1000 Genomes Browser:

rs142288050

Molecular consequence:

• NM_001135774.2:c.708+5587C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001369907.1:c.711+5587C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001369908.1:c.711+5587C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001369909.1:c.708+5587C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001369910.1:c.708+5587C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_003490.4:c.711+5587C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_133633.3:c.711+5587C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000362.5:c.587G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1