ClinVar

NM_198576.4(AGRN):c.2254+118G>A

Gene:

AGRN:agrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.33

Genomic location:

• Chr1: 1044557 (on Assembly GRCh38)
• Chr1: 979937 (on Assembly GRCh37)

Preferred name:

NM_198576.4(AGRN):c.2254+118G>A

HGVS:

• NC_000001.11:g.1044557G>A
• NG_016346.1:g.29435G>A
• NM_001305275.2:c.2254+118G>A
• NM_001364727.2:c.1939+118G>A
• NM_198576.4:c.2254+118G>AMANE SELECT
• LRG_198:g.29435G>A
• NC_000001.10:g.979937G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs72900439

NCBI 1000 Genomes Browser:

rs72900439

Molecular consequence:

• NM_001305275.2:c.2254+118G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001364727.2:c.1939+118G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_198576.4:c.2254+118G>A - intron variant - [Sequence Ontology: SO:0001627]