ClinVar

NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp)

Gene:

PIK3R1:phosphoinositide-3-kinase regulatory subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q13.1

Genomic location:

• Chr5: 68296301 (on Assembly GRCh38)
• Chr5: 67592129 (on Assembly GRCh37)

Preferred name:

NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp)

HGVS:

• NC_000005.10:g.68296301C>T
• NG_012849.2:g.85546C>T
• NM_001242466.2:c.856C>T
• NM_181504.4:c.1135C>T
• NM_181523.3:c.1945C>TMANE SELECT
• NM_181524.2:c.1045C>T
• NP_001229395.1:p.Arg286Trp
• NP_852556.2:p.Arg379Trp
• NP_852664.1:p.Arg649Trp
• NP_852664.1:p.Arg649Trp
• NP_852665.1:p.Arg349Trp
• LRG_453t1:c.1945C>T
• LRG_453:g.85546C>T
• LRG_453p1:p.Arg649Trp
• NC_000005.9:g.67592129C>T
• NM_181523.1:c.1945C>T
• NM_181523.2:c.1945C>T
• P27986:p.Arg649Trp

This HGVS expression did not pass validation

Protein change:

R286W; ARG649TRP

Links:

UniProtKB: P27986#VAR_070223; OMIM: 171833.0004; dbSNP: rs397515453

NCBI 1000 Genomes Browser:

rs397515453

Molecular consequence:

• NM_001242466.2:c.856C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181504.4:c.1135C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181523.3:c.1945C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_181524.2:c.1045C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1