ClinVar

NM_002979.5(SCP2):c.15G>T (p.Pro5=)

Gene:

SCP2:sterol carrier protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p32.3

Genomic location:

• Chr1: 52927411 (on Assembly GRCh38)
• Chr1: 53393083 (on Assembly GRCh37)

Preferred name:

NM_002979.5(SCP2):c.15G>T (p.Pro5=)

HGVS:

• NC_000001.11:g.52927411G>T
• NG_012211.1:g.5136G>T
• NM_001007098.3:c.15G>T
• NM_001193599.2:c.15G>T
• NM_001193600.2:c.15G>T
• NM_001193617.2:c.-171G>T
• NM_001330587.2:c.15G>T
• NM_002979.5:c.15G>TMANE SELECT
• NP_001007099.1:p.Pro5=
• NP_001180528.1:p.Pro5=
• NP_001180529.1:p.Pro5=
• NP_001317516.1:p.Pro5=
• NP_002970.2:p.Pro5=
• NC_000001.10:g.53393083G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs147697594

NCBI 1000 Genomes Browser:

rs147697594

Molecular consequence:

• NM_001193617.2:c.-171G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001007098.3:c.15G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001193599.2:c.15G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001193600.2:c.15G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330587.2:c.15G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002979.5:c.15G>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1