ClinVar

NM_002878.4(RAD51D):c.382C>T (p.Leu128=)

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: 35107086 (on Assembly GRCh38)
• Chr17: 33434105 (on Assembly GRCh37)

Preferred name:

NM_002878.4(RAD51D):c.382C>T (p.Leu128=)

HGVS:

• NC_000017.11:g.35107086G>A
• NG_031858.1:g.17784C>T
• NM_001142571.2:c.442C>T
• NM_002878.4:c.382C>TMANE SELECT
• NM_133629.3:c.145-605C>T
• NP_001136043.1:p.Leu148=
• NP_002869.3:p.Leu128=
• NP_002869.3:p.Leu128=
• LRG_516t1:c.382C>T
• LRG_516:g.17784C>T
• LRG_516p1:p.Leu128=
• NC_000017.10:g.33434105G>A
• NM_002878.3:c.382C>T
• NR_037711.2:n.408C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1438461174

NCBI 1000 Genomes Browser:

rs1438461174

Molecular consequence:

• NM_133629.3:c.145-605C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_037711.2:n.408C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001142571.2:c.442C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002878.4:c.382C>T - synonymous variant - [Sequence Ontology: SO:0001819]