ClinVar

NM_002778.4(PSAP):c.153C>T (p.Thr51=)

Gene:

PSAP:prosaposin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.1

Genomic location:

• Chr10: 71834393 (on Assembly GRCh38)
• Chr10: 73594150 (on Assembly GRCh37)

Preferred name:

NM_002778.4(PSAP):c.153C>T (p.Thr51=)

HGVS:

• NC_000010.11:g.71834393G>A
• NG_009301.1:g.21933C>T
• NM_001042465.3:c.153C>T
• NM_001042466.3:c.153C>T
• NM_002778.4:c.153C>TMANE SELECT
• NP_001035930.1:p.Thr51=
• NP_001035931.1:p.Thr51=
• NP_002769.1:p.Thr51=
• NC_000010.10:g.73594150G>A
• NM_002778.3:c.153C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs11555016

NCBI 1000 Genomes Browser:

rs11555016

Molecular consequence:

• NM_001042465.3:c.153C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001042466.3:c.153C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002778.4:c.153C>T - synonymous variant - [Sequence Ontology: SO:0001819]