ClinVar

NM_002878.4(RAD51D):c.550G>A (p.Glu184Lys)

Genes:

RAD51D:RAD51 paralog D [Gene - OMIM - HGNC]
RAD51L3-RFFL:RAD51L3-RFFL readthrough [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

17q12

Genomic location:

• Chr17: 35106412 (on Assembly GRCh38)
• Chr17: 33433431 (on Assembly GRCh37)

Preferred name:

NM_002878.4(RAD51D):c.550G>A (p.Glu184Lys)

HGVS:

• NC_000017.11:g.35106412C>T
• NG_031858.1:g.18458G>A
• NM_001142571.2:c.610G>A
• NM_002878.4:c.550G>AMANE SELECT
• NM_133629.2:c.214G>A
• NM_133629.3:c.214G>A
• NP_001136043.1:p.Glu204Lys
• NP_002869.3:p.Glu184Lys
• NP_002869.3:p.Glu184Lys
• NP_598332.1:p.Glu72Lys
• LRG_516t1:c.550G>A
• LRG_516:g.18458G>A
• LRG_516p1:p.Glu184Lys
• NC_000017.10:g.33433431C>T
• NM_002878.3:c.550G>A
• NR_037711.2:n.576G>A
• NR_037712.2:n.441G>A
• NR_037714.1:n.302G>A
• p.E184K

This HGVS expression did not pass validation

Protein change:

E184K

Links:

dbSNP: rs200009601

NCBI 1000 Genomes Browser:

rs200009601

Molecular consequence:

• NM_001142571.2:c.610G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002878.4:c.550G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_133629.3:c.214G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_037711.2:n.576G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_037712.2:n.441G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_037714.1:n.302G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]