ClinVar

NM_012210.4(TRIM32):c.1294C>T (p.Leu432Phe)

Genes:

ASTN2:astrotactin 2 [Gene - OMIM - HGNC]
TRIM32:tripartite motif containing 32 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q33.1

Genomic location:

• Chr9: 116699036 (on Assembly GRCh38)
• Chr9: 119461315 (on Assembly GRCh37)

Preferred name:

NM_012210.4(TRIM32):c.1294C>T (p.Leu432Phe)

HGVS:

• NC_000009.12:g.116699036C>T
• NG_011619.1:g.16735C>T
• NG_021409.2:g.721022G>A
• NM_001099679.2:c.1294C>T
• NM_001365068.1:c.2806+26735G>AMANE SELECT
• NM_001365069.1:c.2794+26735G>A
• NM_001379048.1:c.1294C>T
• NM_001379049.1:c.1294C>T
• NM_001379050.1:c.1294C>T
• NM_012210.4:c.1294C>TMANE SELECT
• NM_014010.5:c.2653+26735G>A
• NP_001093149.1:p.Leu432Phe
• NP_001365977.1:p.Leu432Phe
• NP_001365978.1:p.Leu432Phe
• NP_001365979.1:p.Leu432Phe
• NP_036342.2:p.Leu432Phe
• NP_036342.2:p.Leu432Phe
• LRG_211t1:c.1294C>T
• LRG_211:g.16735C>T
• LRG_211p1:p.Leu432Phe
• NC_000009.11:g.119461315C>T
• NM_012210.3:c.1294C>T

This HGVS expression did not pass validation

Protein change:

L432F

Molecular consequence:

• NM_001365068.1:c.2806+26735G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001365069.1:c.2794+26735G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_014010.5:c.2653+26735G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001099679.2:c.1294C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379048.1:c.1294C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379049.1:c.1294C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379050.1:c.1294C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_012210.4:c.1294C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1