ClinVar

NM_012210.4(TRIM32):c.127A>G (p.Ile43Val)

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: 116697869 (on Assembly GRCh38)
• Chr9: 119460148 (on Assembly GRCh37)

Preferred name:

NM_012210.4(TRIM32):c.127A>G (p.Ile43Val)

HGVS:

• NC_000009.12:g.116697869A>G
• NG_011619.1:g.15568A>G
• NG_021409.2:g.722189T>C
• NM_001099679.2:c.127A>G
• NM_001365068.1:c.2806+27902T>CMANE SELECT
• NM_001365069.1:c.2794+27902T>C
• NM_001379048.1:c.127A>G
• NM_001379049.1:c.127A>G
• NM_001379050.1:c.127A>G
• NM_012210.4:c.127A>GMANE SELECT
• NM_014010.5:c.2653+27902T>C
• NP_001093149.1:p.Ile43Val
• NP_001365977.1:p.Ile43Val
• NP_001365978.1:p.Ile43Val
• NP_001365979.1:p.Ile43Val
• NP_036342.2:p.Ile43Val
• NP_036342.2:p.Ile43Val
• LRG_211t1:c.127A>G
• LRG_211:g.15568A>G
• LRG_211p1:p.Ile43Val
• NC_000009.11:g.119460148A>G
• NM_012210.3:c.127A>G

This HGVS expression did not pass validation

Protein change:

I43V

Links:

dbSNP: rs764366522

NCBI 1000 Genomes Browser:

rs764366522

Molecular consequence:

• NM_001365068.1:c.2806+27902T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001365069.1:c.2794+27902T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_014010.5:c.2653+27902T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001099679.2:c.127A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379048.1:c.127A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379049.1:c.127A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379050.1:c.127A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_012210.4:c.127A>G - missense variant - [Sequence Ontology: SO:0001583]