ClinVar

NM_005977.4(RNF6):c.1715G>A (p.Arg572Gln)

Gene:

RNF6:ring finger protein 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.13

Genomic location:

• Chr13: 26214167 (on Assembly GRCh38)
• Chr13: 26788304 (on Assembly GRCh37)

Preferred name:

NM_005977.4(RNF6):c.1715G>A (p.Arg572Gln)

HGVS:

• NC_000013.11:g.26214167C>T
• NG_017042.2:g.13205G>A
• NM_005977.4:c.1715G>AMANE SELECT
• NM_183043.3:c.1715G>A
• NM_183044.3:c.1715G>A
• NM_183045.1:c.408+1307G>A
• NP_005968.1:p.Arg572Gln
• NP_898864.1:p.Arg572Gln
• NP_898865.1:p.Arg572Gln
• NC_000013.10:g.26788304C>T
• NM_005977.3:c.1715G>A

This HGVS expression did not pass validation

Protein change:

R572Q

Links:

dbSNP: rs138379662

NCBI 1000 Genomes Browser:

rs138379662

Molecular consequence:

• NM_183045.1:c.408+1307G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_005977.4:c.1715G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_183043.3:c.1715G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_183044.3:c.1715G>A - missense variant - [Sequence Ontology: SO:0001583]