ClinVar

NM_033022.4(RPS24):c.324G>A (p.Lys108=)

Gene:

RPS24:ribosomal protein S24 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.3

Genomic location:

• Chr10: 78037238 (on Assembly GRCh38)
• Chr10: 79796996 (on Assembly GRCh37)

Preferred name:

NM_033022.4(RPS24):c.324G>A (p.Lys108=)

HGVS:

• NC_000010.11:g.78037238G>A
• NG_012633.1:g.8479G>A
• NM_001026.5:c.324G>A
• NM_001142282.2:c.324G>A
• NM_001142283.2:c.324G>A
• NM_001142284.2:c.324G>A
• NM_001142285.2:c.324G>A
• NM_033022.4:c.324G>AMANE SELECT
• NP_001017.1:p.Lys108=
• NP_001135754.1:p.Lys108=
• NP_001135755.1:p.Lys108=
• NP_001135756.1:p.Lys108=
• NP_001135757.1:p.Lys108=
• NP_148982.1:p.Lys108=
• LRG_1145t1:c.324G>A
• LRG_1145t2:c.324G>A
• LRG_1145t3:c.324G>A
• LRG_1145:g.8479G>A
• LRG_1145p1:p.Lys108=
• LRG_1145p2:p.Lys108=
• LRG_1145p3:p.Lys108=
• NC_000010.10:g.79796996G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs746433565

NCBI 1000 Genomes Browser:

rs746433565

Molecular consequence:

• NM_001026.5:c.324G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142282.2:c.324G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142283.2:c.324G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142284.2:c.324G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001142285.2:c.324G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_033022.4:c.324G>A - synonymous variant - [Sequence Ontology: SO:0001819]