ClinVar

NM_198576.4(AGRN):c.727+62G>A

Genes:

LOC129929077:ATAC-STARR-seq lymphoblastoid silent region 23 [Gene]
AGRN:agrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.33

Genomic location:

• Chr1: 1040942 (on Assembly GRCh38)
• Chr1: 976322 (on Assembly GRCh37)

Preferred name:

NM_198576.4(AGRN):c.727+62G>A

HGVS:

• NC_000001.11:g.1040942G>A
• NG_016346.1:g.25820G>A
• NM_001305275.2:c.727+62G>A
• NM_001364727.2:c.412+62G>A
• NM_198576.4:c.727+62G>AMANE SELECT
• LRG_198:g.25820G>A
• NC_000001.10:g.976322G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs536634406

NCBI 1000 Genomes Browser:

rs536634406

Molecular consequence:

• NM_001305275.2:c.727+62G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001364727.2:c.412+62G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_198576.4:c.727+62G>A - intron variant - [Sequence Ontology: SO:0001627]