ClinVar

NM_000642.3(AGL):c.1736-213C>T

Gene:

AGL:amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p21.2

Genomic location:

• Chr1: 99880419 (on Assembly GRCh38)
• Chr1: 100345975 (on Assembly GRCh37)

Preferred name:

NM_000642.3(AGL):c.1736-213C>T

HGVS:

• NC_000001.11:g.99880419C>T
• NG_012865.1:g.35336C>T
• NM_000028.3:c.1736-213C>T
• NM_000642.3:c.1736-213C>TMANE SELECT
• NM_000643.3:c.1736-213C>T
• NM_000644.3:c.1736-213C>T
• NM_000646.3:c.1688-213C>T
• NM_001425325.1:c.1736-213C>T
• NM_001425326.1:c.1736-213C>T
• NM_001425327.1:c.1535-213C>T
• NM_001425328.1:c.1532-213C>T
• NM_001425329.1:c.1532-213C>T
• NM_001425332.1:c.1358-213C>T
• NC_000001.10:g.100345975C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs12035706

NCBI 1000 Genomes Browser:

rs12035706

Molecular consequence:

• NM_000028.3:c.1736-213C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000642.3:c.1736-213C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000643.3:c.1736-213C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000644.3:c.1736-213C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000646.3:c.1688-213C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001425325.1:c.1736-213C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001425326.1:c.1736-213C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001425327.1:c.1535-213C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001425328.1:c.1532-213C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001425329.1:c.1532-213C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001425332.1:c.1358-213C>T - intron variant - [Sequence Ontology: SO:0001627]