ClinVar

NM_001318810.2(SLITRK3):c.2573C>T (p.Ala858Val)

Gene:

SLITRK3:SLIT and NTRK like family member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q26.1

Genomic location:

• Chr3: 165188258 (on Assembly GRCh38)
• Chr3: 164906046 (on Assembly GRCh37)

Preferred name:

NM_001318810.2(SLITRK3):c.2573C>T (p.Ala858Val)

HGVS:

• NC_000003.12:g.165188258G>A
• NM_001318810.2:c.2573C>TMANE SELECT
• NM_001318811.2:c.2573C>T
• NM_014926.4:c.2573C>T
• NP_001305739.1:p.Ala858Val
• NP_001305740.1:p.Ala858Val
• NP_055741.2:p.Ala858Val
• NC_000003.11:g.164906046G>A
• NM_014926.2:c.2573C>T

This HGVS expression did not pass validation

Protein change:

A858V

Molecular consequence:

• NM_001318810.2:c.2573C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318811.2:c.2573C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014926.4:c.2573C>T - missense variant - [Sequence Ontology: SO:0001583]