ClinVar

NM_012210.4(TRIM32):c.*845C>T

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: 116700549 (on Assembly GRCh38)
• Chr9: 119462828 (on Assembly GRCh37)

Preferred name:

NM_012210.4(TRIM32):c.*845C>T

HGVS:

• NC_000009.12:g.116700549C>T
• NG_011619.1:g.18248C>T
• NG_021409.2:g.719509G>A
• NM_001099679.2:c.*845C>T
• NM_001365068.1:c.2806+25222G>AMANE SELECT
• NM_001365069.1:c.2794+25222G>A
• NM_001379048.1:c.*845C>T
• NM_001379049.1:c.*845C>T
• NM_001379050.1:c.*845C>T
• NM_012210.4:c.*845C>TMANE SELECT
• NM_014010.5:c.2653+25222G>A
• LRG_211t1:c.*845C>T
• LRG_211:g.18248C>T
• NC_000009.11:g.119462828C>T
• NM_012210.3:c.*845C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs111309723

NCBI 1000 Genomes Browser:

rs111309723

Molecular consequence:

• NM_001099679.2:c.*845C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001379048.1:c.*845C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001379049.1:c.*845C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001379050.1:c.*845C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_012210.4:c.*845C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001365068.1:c.2806+25222G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001365069.1:c.2794+25222G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_014010.5:c.2653+25222G>A - intron variant - [Sequence Ontology: SO:0001627]