ClinVar

NM_002906.4(RDX):c.1530C>T (p.Ser510=)

Gene:

RDX:radixin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q22.3

Genomic location:

• Chr11: 110233294 (on Assembly GRCh38)
• Chr11: 110104019 (on Assembly GRCh37)

Preferred name:

NM_002906.4(RDX):c.1530C>T (p.Ser510=)

HGVS:

• NC_000011.10:g.110233294G>A
• NG_023044.2:g.68419C>T
• NM_001260492.2:c.1530C>T
• NM_001260493.2:c.1530C>T
• NM_001260494.2:c.1122C>T
• NM_001260495.2:c.489C>T
• NM_001260496.2:c.405-1290C>T
• NM_002906.4:c.1530C>TMANE SELECT
• NP_001247421.1:p.Ser510=
• NP_001247422.1:p.Ser510=
• NP_001247423.1:p.Ser374=
• NP_001247424.1:p.Ser163=
• NP_002897.1:p.Ser510=
• NP_002897.1:p.Ser510=
• NC_000011.9:g.110104019G>A
• NM_002906.3:c.1530C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs192239366

NCBI 1000 Genomes Browser:

rs192239366

Molecular consequence:

• NM_001260496.2:c.405-1290C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001260492.2:c.1530C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001260493.2:c.1530C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001260494.2:c.1122C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001260495.2:c.489C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002906.4:c.1530C>T - synonymous variant - [Sequence Ontology: SO:0001819]