ClinVar

NM_005188.4(CBL):c.2592C>T (p.Leu864=)

Gene:

CBL:Cbl proto-oncogene [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 119299652 (on Assembly GRCh38)
• Chr11: 119170362 (on Assembly GRCh37)

Preferred name:

NM_005188.4(CBL):c.2592C>T (p.Leu864=)

Other names:

p.L864L:CTC>CTT

HGVS:

• NC_000011.10:g.119299652C>T
• NG_016808.1:g.98373C>T
• NM_005188.4:c.2592C>TMANE SELECT
• NP_005179.2:p.Leu864=
• NP_005179.2:p.Leu864=
• LRG_608t1:c.2592C>T
• LRG_608:g.98373C>T
• LRG_608p1:p.Leu864=
• NC_000011.9:g.119170362C>T
• NM_005188.2:c.2592C>T
• NM_005188.3:c.2592C>T
• c.2592C>T
• p.Leu864Leu

This HGVS expression did not pass validation

Links:

dbSNP: rs1893177

NCBI 1000 Genomes Browser:

rs1893177

Molecular consequence:

• NM_005188.4:c.2592C>T - synonymous variant - [Sequence Ontology: SO:0001819]