ClinVar

NM_018993.4(RIN2):c.2627T>C (p.Ile876Thr)

Gene:

RIN2:Ras and Rab interactor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p11.23

Genomic location:

• Chr20: 20000875 (on Assembly GRCh38)
• Chr20: 19981519 (on Assembly GRCh37)

Preferred name:

NM_018993.4(RIN2):c.2627T>C (p.Ile876Thr)

HGVS:

• NC_000020.11:g.20000875T>C
• NG_016310.2:g.116310T>C
• NM_001242581.1:c.2774T>C
• NM_001242581.2:c.2774T>C
• NM_001378238.1:c.2009T>C
• NM_018993.4:c.2627T>CMANE SELECT
• NP_001229510.1:p.Ile925Thr
• NP_001365167.1:p.Ile670Thr
• NP_061866.1:p.Ile876Thr
• NP_061866.1:p.Ile876Thr
• NC_000020.10:g.19981519T>C
• NM_018993.3:c.2627T>C
• NM_018993.4:c.2627T>C

This HGVS expression did not pass validation

Protein change:

I670T

Links:

dbSNP: rs202076384

NCBI 1000 Genomes Browser:

rs202076384

Molecular consequence:

• NM_001242581.2:c.2774T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378238.1:c.2009T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_018993.4:c.2627T>C - missense variant - [Sequence Ontology: SO:0001583]