ClinVar

NM_001365613.2(RRBP1):c.3414G>A (p.Thr1138=)

Gene:

RRBP1:ribosome binding protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p12.1

Genomic location:

• Chr20: 17621458 (on Assembly GRCh38)
• Chr20: 17602103 (on Assembly GRCh37)

Preferred name:

NM_001365613.2(RRBP1):c.3414G>A (p.Thr1138=)

HGVS:

• NC_000020.11:g.17621458C>T
• NM_001042576.2:c.2115G>A
• NM_001365613.2:c.3414G>AMANE SELECT
• NM_004587.3:c.2115G>A
• NP_001036041.1:p.Thr705=
• NP_001036041.2:p.Thr705=
• NP_001352542.1:p.Thr1138=
• NP_004578.3:p.Thr705=
• NC_000020.10:g.17602103C>T
• NM_001042576.1:c.2115G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs7344647

NCBI 1000 Genomes Browser:

rs7344647

Molecular consequence:

• NM_001042576.2:c.2115G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001365613.2:c.3414G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004587.3:c.2115G>A - synonymous variant - [Sequence Ontology: SO:0001819]