ClinVar

NM_181333.4(PRR5):c.166C>A (p.Arg56Ser)

Genes:

PRR5-ARHGAP8:PRR5-ARHGAP8 readthrough [Gene - HGNC]
PRR5:proline rich 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.31

Genomic location:

• Chr22: 44714622 (on Assembly GRCh38)
• Chr22: 45110502 (on Assembly GRCh37)

Preferred name:

NM_181333.4(PRR5):c.166C>A (p.Arg56Ser)

HGVS:

• NC_000022.11:g.44714622C>A
• NG_029235.2:g.51076C>A
• NG_046967.1:g.17425C>A
• NM_001017528.3:c.139C>A
• NM_001017529.3:c.-120C>A
• NM_001017530.2:c.-120C>A
• NM_001198721.2:c.235C>A
• NM_015366.4:c.139C>A
• NM_181333.4:c.166C>AMANE SELECT
• NM_181334.6:c.166C>A
• NP_001017528.1:p.Arg47Ser
• NP_001185650.1:p.Arg79Ser
• NP_056181.2:p.Arg47Ser
• NP_851850.1:p.Arg56Ser
• NP_851851.3:p.Arg56Ser
• NC_000022.10:g.45110502C>A
• NM_181334.4:c.139C>A

This HGVS expression did not pass validation

Protein change:

R47S

Links:

dbSNP: rs587777903

NCBI 1000 Genomes Browser:

rs587777903

Molecular consequence:

• NM_001017529.3:c.-120C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001017530.2:c.-120C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001017528.3:c.139C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001198721.2:c.235C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015366.4:c.139C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181333.4:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_181334.6:c.166C>A - missense variant - [Sequence Ontology: SO:0001583]