ClinVar

NM_003135.3(SRP19):c.326C>T (p.Ala109Val)

Gene:

SRP19:signal recognition particle 19 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q22.2

Genomic location:

• Chr5: 112867428 (on Assembly GRCh38)
• Chr5: 112203125 (on Assembly GRCh37)

Preferred name:

NM_003135.3(SRP19):c.326C>T (p.Ala109Val)

HGVS:

• NC_000005.10:g.112867428C>T
• NM_001204193.2:c.*25C>T
• NM_001204194.2:c.254C>T
• NM_001204196.2:c.*13C>T
• NM_001204199.2:c.301+2696C>T
• NM_003135.3:c.326C>TMANE SELECT
• NP_001191123.1:p.Ala85Val
• NP_003126.1:p.Ala109Val
• NC_000005.9:g.112203125C>T
• NM_003135.2:c.326C>T

This HGVS expression did not pass validation

Protein change:

A109V

Molecular consequence:

• NM_001204193.2:c.*25C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001204196.2:c.*13C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001204199.2:c.301+2696C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001204194.2:c.254C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003135.3:c.326C>T - missense variant - [Sequence Ontology: SO:0001583]