ClinVar

NM_001365715.1(LRCH3):c.2075C>T (p.Ala692Val)

Gene:

LRCH3:leucine rich repeats and calponin homology domain containing 3 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q29

Genomic location:

• Chr3: 197871407 (on Assembly GRCh38)
• Chr3: 197598278 (on Assembly GRCh37)

Preferred name:

NM_001365715.1(LRCH3):c.2075C>T (p.Ala692Val)

HGVS:

• NC_000003.12:g.197871407C>T
• NM_001363887.1:c.2075C>T
• NM_001365715.1:c.2075C>TMANE SELECT
• NM_001365716.1:c.1967C>T
• NM_001365717.1:c.2003C>T
• NM_001365718.1:c.1967C>T
• NM_032773.4:c.2075C>T
• NP_001350816.1:p.Ala692Val
• NP_001352644.1:p.Ala692Val
• NP_001352645.1:p.Ala656Val
• NP_001352646.1:p.Ala668Val
• NP_001352647.1:p.Ala656Val
• NP_116162.1:p.Ala692Val
• NC_000003.11:g.197598278C>T
• NM_032773.2:c.2075C>T
• NR_158582.1:n.1992C>T

This HGVS expression did not pass validation

Protein change:

A656V

Molecular consequence:

• NM_001363887.1:c.2075C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365715.1:c.2075C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365716.1:c.1967C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365717.1:c.2003C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365718.1:c.1967C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_032773.4:c.2075C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_158582.1:n.1992C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]