ClinVar

NM_001365715.1(LRCH3):c.662T>A (p.Ile221Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q29

Genomic location:

• Chr3: 197826899 (on Assembly GRCh38)
• Chr3: 197553770 (on Assembly GRCh37)

Preferred name:

NM_001365715.1(LRCH3):c.662T>A (p.Ile221Lys)

HGVS:

• NC_000003.12:g.197826899T>A
• NM_001363887.1:c.662T>A
• NM_001365715.1:c.662T>AMANE SELECT
• NM_001365716.1:c.662T>A
• NM_001365717.1:c.662T>A
• NM_001365718.1:c.662T>A
• NM_001365719.2:c.662T>A
• NM_032773.4:c.662T>A
• NP_001350816.1:p.Ile221Lys
• NP_001352644.1:p.Ile221Lys
• NP_001352645.1:p.Ile221Lys
• NP_001352646.1:p.Ile221Lys
• NP_001352647.1:p.Ile221Lys
• NP_001352648.1:p.Ile221Lys
• NP_116162.1:p.Ile221Lys
• NC_000003.11:g.197553770T>A
• NM_032773.2:c.662T>A
• NR_158582.1:n.687T>A

This HGVS expression did not pass validation

Protein change:

I221K

Molecular consequence:

• NM_001363887.1:c.662T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365715.1:c.662T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365716.1:c.662T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365717.1:c.662T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365718.1:c.662T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365719.2:c.662T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_032773.4:c.662T>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_158582.1:n.687T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]