ClinVar

NM_000534.5(PMS1):c.2303C>T (p.Pro768Leu)

Gene:

PMS1:PMS1 homolog 1, mismatch repair system component [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q32.2

Genomic location:

• Chr2: 189864189 (on Assembly GRCh38)
• Chr2: 190728915 (on Assembly GRCh37)

Preferred name:

NM_000534.5(PMS1):c.2303C>T (p.Pro768Leu)

HGVS:

• NC_000002.12:g.189864189C>T
• NG_008648.1:g.85105C>T
• NM_000534.5:c.2303C>TMANE SELECT
• NM_001128143.2:c.2186C>T
• NM_001128144.2:c.1857-3610C>T
• NM_001289408.2:c.1775C>T
• NM_001289409.2:c.1775C>T
• NM_001321044.2:c.1740-3610C>T
• NM_001321045.2:c.2303C>T
• NM_001321046.2:c.2120C>T
• NM_001321047.2:c.2303C>T
• NM_001321048.2:c.2303C>T
• NP_000525.1:p.Pro768Leu
• NP_000525.1:p.Pro768Leu
• NP_001121615.1:p.Pro729Leu
• NP_001276337.1:p.Pro592Leu
• NP_001276338.1:p.Pro592Leu
• NP_001307974.1:p.Pro768Leu
• NP_001307975.1:p.Pro707Leu
• NP_001307976.1:p.Pro768Leu
• NP_001307977.1:p.Pro768Leu
• LRG_221t1:c.2303C>T
• LRG_221:g.85105C>T
• LRG_221p1:p.Pro768Leu
• NC_000002.11:g.190728915C>T
• NM_000534.4:c.2303C>T

This HGVS expression did not pass validation

Protein change:

P592L

Molecular consequence:

• NM_001128144.2:c.1857-3610C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001321044.2:c.1740-3610C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000534.5:c.2303C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001128143.2:c.2186C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289408.2:c.1775C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289409.2:c.1775C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321045.2:c.2303C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321046.2:c.2120C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321047.2:c.2303C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321048.2:c.2303C>T - missense variant - [Sequence Ontology: SO:0001583]