ClinVar

NM_001177949.2(SYCP3):c.665A>T (p.Gln222Leu)

Genes:

CHPT1:choline phosphotransferase 1 [Gene - OMIM - HGNC]
SYCP3:synaptonemal complex protein 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q23.2

Genomic location:

• Chr12: 101728973 (on Assembly GRCh38)
• Chr12: 102122751 (on Assembly GRCh37)

Preferred name:

NM_001177949.2(SYCP3):c.665A>T (p.Gln222Leu)

HGVS:

• NC_000012.12:g.101728973T>A
• NG_021181.1:g.15497A>T
• NM_001177948.2:c.665A>T
• NM_001177949.2:c.665A>TMANE SELECT
• NM_020244.3:c.*28T>AMANE SELECT
• NM_153694.5:c.665A>T
• NP_001171419.1:p.Gln222Leu
• NP_001171420.1:p.Gln222Leu
• NP_710161.1:p.Gln222Leu
• NC_000012.11:g.102122751T>A
• NM_153694.4:c.665A>T

This HGVS expression did not pass validation

Protein change:

Q222L

Molecular consequence:

• NM_020244.3:c.*28T>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001177948.2:c.665A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001177949.2:c.665A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_153694.5:c.665A>T - missense variant - [Sequence Ontology: SO:0001583]