ClinVar

NM_001081.4(CUBN):c.1000C>T (p.Gln334Ter)

Gene:

CUBN:cubilin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10p13

Genomic location:

• Chr10: 17110934 (on Assembly GRCh38)
• Chr10: 17152933 (on Assembly GRCh37)

Preferred name:

NM_001081.4(CUBN):c.1000C>T (p.Gln334Ter)

HGVS:

• NC_000010.11:g.17110934G>A
• NG_008967.1:g.23884C>T
• NM_001081.4:c.1000C>TMANE SELECT
• NP_001072.2:p.Gln334Ter
• NP_001072.2:p.Gln334Ter
• LRG_540t1:c.1000C>T
• LRG_540:g.23884C>T
• LRG_540p1:p.Gln334Ter
• NC_000010.10:g.17152933G>A
• NM_001081.3:c.1000C>T

This HGVS expression did not pass validation

Protein change:

Q334*

Links:

dbSNP: rs561240556

NCBI 1000 Genomes Browser:

rs561240556

Molecular consequence:

• NM_001081.4:c.1000C>T - nonsense - [Sequence Ontology: SO:0001587]