ClinVar

NM_001927.4(DES):c.75A>T (p.Pro25=)

Gene:

DES:desmin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 219418537 (on Assembly GRCh38)
• Chr2: 220283259 (on Assembly GRCh37)

Preferred name:

NM_001927.4(DES):c.75A>T (p.Pro25=)

HGVS:

• NC_000002.12:g.219418537A>T
• NG_008043.1:g.5161A>T
• NG_046330.1:g.18929A>T
• NM_001382708.1:c.75A>T
• NM_001382709.1:c.75A>T
• NM_001382710.1:c.75A>T
• NM_001382711.1:c.75A>T
• NM_001382712.1:c.75A>T
• NM_001382713.1:c.75A>T
• NM_001927.4:c.75A>TMANE SELECT
• NP_001369637.1:p.Pro25=
• NP_001369638.1:p.Pro25=
• NP_001369639.1:p.Pro25=
• NP_001369640.1:p.Pro25=
• NP_001369641.1:p.Pro25=
• NP_001369642.1:p.Pro25=
• NP_001918.3:p.Pro25=
• LRG_380:g.5161A>T
• NC_000002.11:g.220283259A>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1318299

NCBI 1000 Genomes Browser:

rs1318299

Molecular consequence:

• NM_001382708.1:c.75A>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382709.1:c.75A>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382710.1:c.75A>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382711.1:c.75A>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382712.1:c.75A>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382713.1:c.75A>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001927.4:c.75A>T - synonymous variant - [Sequence Ontology: SO:0001819]