ClinVar

NM_173630.4(RTTN):c.1738C>T (p.Arg580Cys)

Gene:

RTTN:rotatin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q22.2

Genomic location:

• Chr18: 70166983 (on Assembly GRCh38)
• Chr18: 67834219 (on Assembly GRCh37)

Preferred name:

NM_173630.4(RTTN):c.1738C>T (p.Arg580Cys)

HGVS:

• NC_000018.10:g.70166983G>A
• NG_033104.1:g.43744C>T
• NM_001318520.2:c.-910C>T
• NM_173630.4:c.1738C>TMANE SELECT
• NP_775901.3:p.Arg580Cys
• NC_000018.9:g.67834219G>A
• NM_173630.3:c.1738C>T

This HGVS expression did not pass validation

Protein change:

R580C

Links:

dbSNP: rs368918234

NCBI 1000 Genomes Browser:

rs368918234

Molecular consequence:

• NM_001318520.2:c.-910C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_173630.4:c.1738C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1