ClinVar

NM_001244926.2(PRPF4):c.343G>T (p.Gly115Trp)

Gene:

PRPF4:pre-mRNA splicing tri-snRNP complex factor PRPF4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q32

Genomic location:

• Chr9: 113279082 (on Assembly GRCh38)
• Chr9: 116041362 (on Assembly GRCh37)

Preferred name:

NM_001244926.2(PRPF4):c.343G>T (p.Gly115Trp)

HGVS:

• NC_000009.12:g.113279082G>T
• NG_034225.1:g.8449G>T
• NM_001244926.2:c.343G>TMANE SELECT
• NM_001322266.2:c.-423G>T
• NM_001322267.2:c.-423G>T
• NM_004697.5:c.346G>T
• NP_001231855.1:p.Gly115Trp
• NP_004688.2:p.Gly116Trp
• NC_000009.11:g.116041362G>T
• NR_136265.2:n.432G>T
• NR_136266.2:n.429G>T

This HGVS expression did not pass validation

Protein change:

G115W

Links:

dbSNP: rs369899984

NCBI 1000 Genomes Browser:

rs369899984

Molecular consequence:

• NM_001322266.2:c.-423G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001322267.2:c.-423G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001244926.2:c.343G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004697.5:c.346G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_136265.2:n.432G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_136266.2:n.429G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]