ClinVar

NM_153685.3(PIANP):c.524G>A (p.Gly175Asp)

Gene:

PIANP:PILR alpha associated neural protein [Gene - OMIM]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

• Chr12: 6696524 (on Assembly GRCh38)
• Chr12: 6805690 (on Assembly GRCh37)
• Chr12: 6675951 (on Assembly NCBI36)

Preferred name:

NM_153685.3(PIANP):c.524G>A (p.Gly175Asp)

HGVS:

• NC_000012.12:g.6696524C>T
• NG_029972.1:g.9320G>A
• NM_153685.3:c.524G>A
• NP_710152.1:p.Gly175Asp
• NC_000012.10:g.6675951C>T
• NC_000012.11:g.6805690C>T
• NM_153685.2:c.524G>A

This HGVS expression did not pass validation

Protein change:

G175D

Links:

dbSNP: rs267603641

NCBI 1000 Genomes Browser:

rs267603641

Molecular consequence:

• NM_153685.3:c.524G>A - missense variant - [Sequence Ontology: SO:0001583]