ClinVar

NM_198576.4(AGRN):c.4821C>T (p.Pro1607=)

Gene:

AGRN:agrin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.33

Genomic location:

• Chr1: 1049979 (on Assembly GRCh38)
• Chr1: 985359 (on Assembly GRCh37)

Preferred name:

NM_198576.4(AGRN):c.4821C>T (p.Pro1607=)

HGVS:

• NC_000001.11:g.1049979C>T
• NG_016346.1:g.34857C>T
• NM_001305275.2:c.4821C>T
• NM_001364727.2:c.4506C>T
• NM_198576.4:c.4821C>TMANE SELECT
• NP_001292204.1:p.Pro1607=
• NP_001351656.1:p.Pro1502=
• NP_940978.2:p.Pro1607=
• LRG_198:g.34857C>T
• NC_000001.10:g.985359C>T
• NM_198576.3:c.4821C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs149543827

NCBI 1000 Genomes Browser:

rs149543827

Molecular consequence:

• NM_001305275.2:c.4821C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001364727.2:c.4506C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198576.4:c.4821C>T - synonymous variant - [Sequence Ontology: SO:0001819]