ClinVar

NM_000035.4(ALDOB):c.489T>A (p.Ala163=)

Gene:

ALDOB:aldolase, fructose-bisphosphate B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q31.1

Genomic location:

• Chr9: 101427533 (on Assembly GRCh38)
• Chr9: 104189815 (on Assembly GRCh37)

Preferred name:

NM_000035.4(ALDOB):c.489T>A (p.Ala163=)

HGVS:

• NC_000009.12:g.101427533A>T
• NG_012387.1:g.13248T>A
• NM_000035.4:c.489T>AMANE SELECT
• NP_000026.2:p.Ala163=
• LRG_1244t1:c.489T>A
• LRG_1244:g.13248T>A
• LRG_1244p1:p.Ala163=
• NC_000009.11:g.104189815A>T

This HGVS expression did not pass validation

Links:

dbSNP: rs578048957

NCBI 1000 Genomes Browser:

rs578048957

Molecular consequence:

• NM_000035.4:c.489T>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1