ClinVar

NM_014276.4(RBPJL):c.1334A>T (p.Asp445Val)

Gene:

RBPJL:recombination signal binding protein for immunoglobulin kappa J region like [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.12

Genomic location:

• Chr20: 45316739 (on Assembly GRCh38)
• Chr20: 43945379 (on Assembly GRCh37)

Preferred name:

NM_014276.4(RBPJL):c.1334A>T (p.Asp445Val)

HGVS:

• NC_000020.11:g.45316739A>T
• NM_001281448.2:c.1344A>T
• NM_001281449.2:c.1331A>T
• NM_014276.4:c.1334A>TMANE SELECT
• NP_001268377.1:p.Arg448=
• NP_001268378.1:p.Asp444Val
• NP_055091.2:p.Asp445Val
• NC_000020.10:g.43945379A>T
• NM_014276.2:c.1334A>T

This HGVS expression did not pass validation

Protein change:

D444V

Molecular consequence:

• NM_001281449.2:c.1331A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014276.4:c.1334A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281448.2:c.1344A>T - synonymous variant - [Sequence Ontology: SO:0001819]