ClinVar

NM_001243177.4(ALDOA):c.274+4C>T

Genes:

ALDOA:aldolase, fructose-bisphosphate A [Gene - OMIM - HGNC]
LOC112694756:uncharaterized LOC112694756 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

16p11.2

Genomic location:

• Chr16: 30067370 (on Assembly GRCh38)
• Chr16: 30078691 (on Assembly GRCh37)

Preferred name:

NM_001243177.4(ALDOA):c.274+4C>T

Other names:

NM_000034.3:c.112+4C>T

HGVS:

• NC_000016.10:g.30067370C>T
• NG_008010.1:g.19201C>T
• NM_001127617.2:c.112+4C>T
• NM_001243177.4:c.274+4C>TMANE SELECT
• NM_001365304.2:c.*621+4C>TMANE SELECT
• NM_001365305.2:c.*621+4C>T
• NM_001365307.2:c.*621+4C>T
• NM_184041.5:c.112+4C>T
• NM_184043.2:c.112+4C>T
• LRG_1180t1:c.112+4C>T
• LRG_1180t2:c.274+4C>T
• LRG_1180:g.19201C>T
• NC_000016.9:g.30078691C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs200278984

NCBI 1000 Genomes Browser:

rs200278984

Molecular consequence:

• NM_001127617.2:c.112+4C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001243177.4:c.274+4C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001365304.2:c.*621+4C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001365305.2:c.*621+4C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001365307.2:c.*621+4C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_184041.5:c.112+4C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_184043.2:c.112+4C>T - intron variant - [Sequence Ontology: SO:0001627]