ClinVar

NM_002764.4(PRPS1):c.705-11T>C

Gene:

PRPS1:phosphoribosyl pyrophosphate synthetase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.3

Genomic location:

• ChrX: 107647595 (on Assembly GRCh38)
• ChrX: 106890825 (on Assembly GRCh37)

Preferred name:

NM_002764.4(PRPS1):c.705-11T>C

HGVS:

• NC_000023.11:g.107647595T>C
• NG_008407.1:g.24172T>C
• NM_001204402.2:c.93-11T>C
• NM_002764.4:c.705-11T>CMANE SELECT
• LRG_264:g.24172T>C
• NC_000023.10:g.106890825T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs190164271

NCBI 1000 Genomes Browser:

rs190164271

Molecular consequence:

• NM_001204402.2:c.93-11T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_002764.4:c.705-11T>C - intron variant - [Sequence Ontology: SO:0001627]