ClinVar

NM_002878.4(RAD51D):c.771C>T (p.Ser257=)

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: 35101333 (on Assembly GRCh38)
• Chr17: 33428352 (on Assembly GRCh37)

Preferred name:

NM_002878.4(RAD51D):c.771C>T (p.Ser257=)

Other names:

p.S257S:AGC>AGT

HGVS:

• NC_000017.11:g.35101333G>A
• NG_031858.1:g.23537C>T
• NM_001142571.2:c.831C>T
• NM_002878.4:c.771C>TMANE SELECT
• NM_133629.3:c.435C>T
• NP_001136043.1:p.Ser277=
• NP_002869.3:p.Ser257=
• NP_002869.3:p.Ser257=
• NP_598332.1:p.Ser145=
• LRG_516t1:c.771C>T
• LRG_516:g.23537C>T
• LRG_516p1:p.Ser257=
• NC_000017.10:g.33428352G>A
• NM_002878.3:c.771C>T
• NM_002878.4:c.771C>T
• NR_037711.2:n.797C>T
• NR_037712.2:n.662C>T
• NR_037714.1:n.523C>T
• p.S257S

This HGVS expression did not pass validation

Links:

dbSNP: rs146212490

NCBI 1000 Genomes Browser:

rs146212490

Molecular consequence:

• NR_037711.2:n.797C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_037712.2:n.662C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_037714.1:n.523C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001142571.2:c.831C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002878.4:c.771C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_133629.3:c.435C>T - synonymous variant - [Sequence Ontology: SO:0001819]