ClinVar

NM_001371194.2(SEMA4D):c.2375C>T (p.Thr792Met)

Gene:

SEMA4D:semaphorin 4D [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q22.2

Genomic location:

• Chr9: 89378918 (on Assembly GRCh38)
• Chr9: 91993833 (on Assembly GRCh37)

Preferred name:

NM_001371194.2(SEMA4D):c.2375C>T (p.Thr792Met)

HGVS:

• NC_000009.12:g.89378918G>A
• NM_001142287.2:c.1664-1867C>T
• NM_001371194.2:c.2375C>TMANE SELECT
• NM_001371195.1:c.2375C>T
• NM_001371196.1:c.2375C>T
• NM_001371197.1:c.2375C>T
• NM_001371198.1:c.1664-1867C>T
• NM_001371199.1:c.1664-1867C>T
• NM_001371200.1:c.1664-1867C>T
• NM_001371201.1:c.1664-1867C>T
• NM_001371202.1:c.1664-1867C>T
• NM_006378.4:c.2375C>T
• NP_001358123.1:p.Thr792Met
• NP_001358124.1:p.Thr792Met
• NP_001358125.1:p.Thr792Met
• NP_001358126.1:p.Thr792Met
• NP_006369.3:p.Thr792Met
• NC_000009.11:g.91993833G>A
• NM_006378.3:c.2375C>T

This HGVS expression did not pass validation

Protein change:

T792M

Molecular consequence:

• NM_001142287.2:c.1664-1867C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001371198.1:c.1664-1867C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001371199.1:c.1664-1867C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001371200.1:c.1664-1867C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001371201.1:c.1664-1867C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001371202.1:c.1664-1867C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001371194.2:c.2375C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371195.1:c.2375C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371196.1:c.2375C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371197.1:c.2375C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006378.4:c.2375C>T - missense variant - [Sequence Ontology: SO:0001583]