ClinVar

NM_001085382.2(PSAPL1):c.1485C>T (p.Ala495=)

Genes:

PSAPL1:prosaposin like 1 [Gene - HGNC]
SORCS2:sortilin related VPS10 domain containing receptor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.1

Genomic location:

• Chr4: 7433395 (on Assembly GRCh38)
• Chr4: 7435122 (on Assembly GRCh37)

Preferred name:

NM_001085382.2(PSAPL1):c.1485C>T (p.Ala495=)

HGVS:

• NC_000004.12:g.7433395G>A
• NM_001085382.2:c.1485C>TMANE SELECT
• NM_020777.3:c.548+37040G>AMANE SELECT
• NP_001078851.1:p.Ala495=
• NC_000004.11:g.7435122G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_020777.3:c.548+37040G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001085382.2:c.1485C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1