ClinVar

NM_001365597.4(PRPF40A):c.2528C>T (p.Ser843Phe)

Gene:

PRPF40A:pre-mRNA processing factor 40 homolog A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q23.3

Genomic location:

• Chr2: 152659277 (on Assembly GRCh38)
• Chr2: 153515791 (on Assembly GRCh37)

Preferred name:

NM_001365597.4(PRPF40A):c.2528C>T (p.Ser843Phe)

HGVS:

• NC_000002.12:g.152659277G>A
• NM_001354431.4:c.2348C>T
• NM_001354432.4:c.2198C>T
• NM_001365596.4:c.2540C>T
• NM_001365597.4:c.2528C>TMANE SELECT
• NM_001365598.4:c.2486C>T
• NM_001365599.4:c.2474C>T
• NM_001365600.4:c.2414C>T
• NM_001365601.4:c.2360C>T
• NM_001365602.4:c.2246C>T
• NM_001365603.4:c.2234C>T
• NM_001365604.4:c.2180C>T
• NM_001365605.4:c.2180C>T
• NM_001395472.1:c.2414C>T
• NM_001395473.1:c.2402C>T
• NM_001395475.1:c.2369C>T
• NM_001395476.1:c.2360C>T
• NM_001395477.1:c.2357C>T
• NM_001395478.1:c.2357C>T
• NM_001395479.1:c.2348C>T
• NM_001395480.1:c.2243C>T
• NM_001395481.1:c.2234C>T
• NM_001395482.1:c.2192C>T
• NM_001395483.1:c.2102C>T
• NM_001395488.1:c.2594C>T
• NM_017892.5:c.2402C>T
• NP_001341360.1:p.Ser783Phe
• NP_001341361.1:p.Ser733Phe
• NP_001352525.1:p.Ser847Phe
• NP_001352526.1:p.Ser843Phe
• NP_001352527.1:p.Ser829Phe
• NP_001352528.1:p.Ser825Phe
• NP_001352529.1:p.Ser805Phe
• NP_001352530.1:p.Ser787Phe
• NP_001352531.1:p.Ser749Phe
• NP_001352532.1:p.Ser745Phe
• NP_001352533.1:p.Ser727Phe
• NP_001352534.1:p.Ser727Phe
• NP_001382401.1:p.Ser805Phe
• NP_001382402.1:p.Ser801Phe
• NP_001382404.1:p.Ser790Phe
• NP_001382405.1:p.Ser787Phe
• NP_001382406.1:p.Ser786Phe
• NP_001382407.1:p.Ser786Phe
• NP_001382408.1:p.Ser783Phe
• NP_001382409.1:p.Ser748Phe
• NP_001382410.1:p.Ser745Phe
• NP_001382411.1:p.Ser731Phe
• NP_001382412.1:p.Ser701Phe
• NP_001382417.1:p.Ser865Phe
• NP_060362.3:p.Ser801Phe
• NC_000002.11:g.153515791G>A
• NM_017892.3:c.2402C>T

This HGVS expression did not pass validation

Protein change:

S701F

Molecular consequence:

• NM_001354431.4:c.2348C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354432.4:c.2198C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365596.4:c.2540C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365597.4:c.2528C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365598.4:c.2486C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365599.4:c.2474C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365600.4:c.2414C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365601.4:c.2360C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365602.4:c.2246C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365603.4:c.2234C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365604.4:c.2180C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001365605.4:c.2180C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001395472.1:c.2414C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001395473.1:c.2402C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001395475.1:c.2369C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001395476.1:c.2360C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001395477.1:c.2357C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001395478.1:c.2357C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001395479.1:c.2348C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001395480.1:c.2243C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001395481.1:c.2234C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001395482.1:c.2192C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001395483.1:c.2102C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001395488.1:c.2594C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_017892.5:c.2402C>T - missense variant - [Sequence Ontology: SO:0001583]