ClinVar

NM_002778.4(PSAP):c.128G>A (p.Gly43Glu)

Gene:

PSAP:prosaposin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.1

Genomic location:

• Chr10: 71834418 (on Assembly GRCh38)
• Chr10: 73594175 (on Assembly GRCh37)

Preferred name:

NM_002778.4(PSAP):c.128G>A (p.Gly43Glu)

HGVS:

• NC_000010.11:g.71834418C>T
• NG_009301.1:g.21908G>A
• NM_001042465.3:c.128G>A
• NM_001042466.3:c.128G>A
• NM_002778.4:c.128G>AMANE SELECT
• NP_001035930.1:p.Gly43Glu
• NP_001035931.1:p.Gly43Glu
• NP_002769.1:p.Gly43Glu
• NC_000010.10:g.73594175C>T
• NM_002778.2:c.128G>A
• NM_002778.3:c.128G>A

This HGVS expression did not pass validation

Protein change:

G43E

Links:

dbSNP: rs558427025

NCBI 1000 Genomes Browser:

rs558427025

Molecular consequence:

• NM_001042465.3:c.128G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042466.3:c.128G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002778.4:c.128G>A - missense variant - [Sequence Ontology: SO:0001583]