ClinVar

NM_001382430.1(AKT1):c.1194C>T (p.Asp398=)

Gene:

AKT1:AKT serine/threonine kinase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q32.33

Genomic location:

• Chr14: 104772431 (on Assembly GRCh38)
• Chr14: 105238768 (on Assembly GRCh37)

Preferred name:

NM_001382430.1(AKT1):c.1194C>T (p.Asp398=)

HGVS:

• NC_000014.9:g.104772431G>A
• NG_012188.1:g.28314C>T
• NM_001014431.2:c.1194C>T
• NM_001014432.2:c.1194C>T
• NM_001382430.1:c.1194C>TMANE SELECT
• NM_001382431.1:c.1194C>T
• NM_001382432.1:c.1194C>T
• NM_001382433.1:c.1194C>T
• NM_005163.2:c.1194C>T
• NP_001014431.1:p.Asp398=
• NP_001014432.1:p.Asp398=
• NP_001369359.1:p.Asp398=
• NP_001369360.1:p.Asp398=
• NP_001369361.1:p.Asp398=
• NP_001369362.1:p.Asp398=
• NP_005154.2:p.Asp398=
• LRG_721t2:c.1194C>T
• LRG_721:g.28314C>T
• LRG_721p2:p.Asp398=
• NC_000014.8:g.105238768G>A
• NM_001014431.1:c.1194C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs151254374

NCBI 1000 Genomes Browser:

rs151254374

Molecular consequence:

• NM_001014431.2:c.1194C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001014432.2:c.1194C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382430.1:c.1194C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382431.1:c.1194C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382432.1:c.1194C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001382433.1:c.1194C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005163.2:c.1194C>T - synonymous variant - [Sequence Ontology: SO:0001819]