ClinVar

NM_001243177.4(ALDOA):c.966C>T (p.Ile322=)

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: 30069834 (on Assembly GRCh38)
• Chr16: 30081155 (on Assembly GRCh37)

Preferred name:

NM_001243177.4(ALDOA):c.966C>T (p.Ile322=)

HGVS:

• NC_000016.10:g.30069834C>T
• NG_008010.1:g.21665C>T
• NM_001127617.2:c.804C>T
• NM_001243177.4:c.966C>TMANE SELECT
• NM_001365304.2:c.*1313C>TMANE SELECT
• NM_001365305.2:c.*1313C>T
• NM_001365307.2:c.*1313C>T
• NM_184041.5:c.804C>T
• NM_184043.2:c.804C>T
• NP_001121089.1:p.Ile268=
• NP_001230106.1:p.Ile322=
• NP_908930.1:p.Ile268=
• NP_908932.1:p.Ile268=
• LRG_1180t1:c.804C>T
• LRG_1180t2:c.966C>T
• LRG_1180:g.21665C>T
• LRG_1180p1:p.Ile268=
• LRG_1180p2:p.Ile322=
• NC_000016.9:g.30081155C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001365304.2:c.*1313C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001365305.2:c.*1313C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001365307.2:c.*1313C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001127617.2:c.804C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001243177.4:c.966C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_184041.5:c.804C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_184043.2:c.804C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1