ClinVar

NM_001927.4(DES):c.1298C>T (p.Pro433Leu)

Gene:

DES:desmin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 219425672 (on Assembly GRCh38)
• Chr2: 220290394 (on Assembly GRCh37)

Preferred name:

NM_001927.4(DES):c.1298C>T (p.Pro433Leu)

HGVS:

• NC_000002.12:g.219425672C>T
• NG_008043.1:g.12296C>T
• NM_001382708.1:c.1295C>T
• NM_001382709.1:c.866C>T
• NM_001382710.1:c.1229C>T
• NM_001382711.1:c.1277C>T
• NM_001382712.1:c.1298C>T
• NM_001382713.1:c.1028C>T
• NM_001927.4:c.1298C>TMANE SELECT
• NP_001369637.1:p.Pro432Leu
• NP_001369638.1:p.Pro289Leu
• NP_001369639.1:p.Pro410Leu
• NP_001369640.1:p.Pro426Leu
• NP_001369641.1:p.Pro433Leu
• NP_001369642.1:p.Pro343Leu
• NP_001918.3:p.Pro433Leu
• NP_001918.3:p.Pro433Leu
• LRG_380t1:c.1298C>T
• LRG_380:g.12296C>T
• LRG_380p1:p.Pro433Leu
• NC_000002.11:g.220290394C>T
• NM_001927.3:c.1298C>T

This HGVS expression did not pass validation

Protein change:

P289L

Molecular consequence:

• NM_001382708.1:c.1295C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382709.1:c.866C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382710.1:c.1229C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382711.1:c.1277C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382712.1:c.1298C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382713.1:c.1028C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001927.4:c.1298C>T - missense variant - [Sequence Ontology: SO:0001583]