ClinVar

NM_002906.4(RDX):c.910C>T (p.Gln304Ter)

Gene:

RDX:radixin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q22.3

Genomic location:

• Chr11: 110253995 (on Assembly GRCh38)
• Chr11: 110124720 (on Assembly GRCh37)

Preferred name:

NM_002906.4(RDX):c.910C>T (p.Gln304Ter)

HGVS:

• NC_000011.10:g.110253995G>A
• NG_023044.2:g.47718C>T
• NM_001260492.2:c.910C>T
• NM_001260493.2:c.910C>T
• NM_001260494.2:c.502C>T
• NM_001260495.2:c.-82-6162C>T
• NM_001260496.2:c.404+4162C>T
• NM_002906.4:c.910C>TMANE SELECT
• NP_001247421.1:p.Gln304Ter
• NP_001247422.1:p.Gln304Ter
• NP_001247423.1:p.Gln168Ter
• NP_002897.1:p.Gln304Ter
• NP_002897.1:p.Gln304Ter
• NC_000011.9:g.110124720G>A
• NM_002906.3:c.910C>T

This HGVS expression did not pass validation

Protein change:

Q168*

Links:

dbSNP: rs893826250

NCBI 1000 Genomes Browser:

rs893826250

Molecular consequence:

• NM_001260495.2:c.-82-6162C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001260496.2:c.404+4162C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001260492.2:c.910C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001260493.2:c.910C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001260494.2:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_002906.4:c.910C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1