ClinVar

NM_000476.3(AK1):c.8-376C>T

Genes:

ST6GALNAC4-ST6GALNAC6-AK1:ST6GALNAC4-ST6GALNAC6-AK1 readthrough [Gene]
AK1:adenylate kinase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

• Chr9: 127873437 (on Assembly GRCh38)
• Chr9: 130635716 (on Assembly GRCh37)

Preferred name:

NM_000476.3(AK1):c.8-376C>T

HGVS:

• NC_000009.12:g.127873437G>A
• NG_011792.2:g.9307C>T
• NM_000476.3:c.8-376C>TMANE SELECT
• NM_001318121.1:c.8-376C>T
• NM_001318122.2:c.12C>T
• NP_001305051.1:p.Cys4=
• LRG_1187t1:c.8-376C>T
• LRG_1187:g.9307C>T
• NC_000009.11:g.130635716G>A
• NG_011792.1:g.9307C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs116301334

NCBI 1000 Genomes Browser:

rs116301334

Molecular consequence:

• NM_000476.3:c.8-376C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318121.1:c.8-376C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318122.2:c.12C>T - synonymous variant - [Sequence Ontology: SO:0001819]