ClinVar

NM_002087.4(GRN):c.328C>T (p.Arg110Ter)

Gene:

GRN:granulin precursor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

• Chr17: 44349730 (on Assembly GRCh38)
• Chr17: 42427098 (on Assembly GRCh37)

Preferred name:

NM_002087.4(GRN):c.328C>T (p.Arg110Ter)

HGVS:

• NC_000017.11:g.44349730C>T
• NG_007886.1:g.9608C>T
• NM_002087.4:c.328C>TMANE SELECT
• NP_002078.1:p.Arg110Ter
• LRG_661t1:c.328C>T
• LRG_661:g.9608C>T
• NC_000017.10:g.42427098C>T
• NM_002087.2:c.328C>T
• NM_002087.3:c.328C>T

This HGVS expression did not pass validation

Protein change:

R110*

Links:

dbSNP: rs63750411

NCBI 1000 Genomes Browser:

rs63750411

Molecular consequence:

• NM_002087.4:c.328C>T - nonsense - [Sequence Ontology: SO:0001587]

Functional consequence:

loss_of_function_variant [Sequence Ontology: SO:0002054]

Observations:

1