ClinVar

NM_181523.3(PIK3R1):c.1425+1G>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q13.1

Genomic location:

• Chr5: 68293835 (on Assembly GRCh38)
• Chr5: 67589663 (on Assembly GRCh37)

Preferred name:

NM_181523.3(PIK3R1):c.1425+1G>C

HGVS:

• NC_000005.10:g.68293835G>C
• NG_012849.2:g.83080G>C
• NM_001242466.2:c.336+1G>C
• NM_181504.4:c.615+1G>C
• NM_181523.3:c.1425+1G>CMANE SELECT
• NM_181524.2:c.525+1G>C
• LRG_453t1:c.1425+1G>C
• LRG_453:g.83080G>C
• NC_000005.9:g.67589663G>C
• NM_181523.2:c.1425+1G>C

This HGVS expression did not pass validation

Note:

NCBI staff reviewed the sequence information reported in PubMed 25133428 Fig. 1D to determine the location of this allele on the current reference sequence.

Nucleotide change:

IVS11DS, G-C, +1

Links:

OMIM: 171833.0008; dbSNP: rs587777709

NCBI 1000 Genomes Browser:

rs587777709

Molecular consequence:

• NM_001242466.2:c.336+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_181504.4:c.615+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_181523.3:c.1425+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
• NM_181524.2:c.525+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]