ClinVar

NM_016539.4(SIRT6):c.1019C>T (p.Ala340Val)

Gene:

SIRT6:sirtuin 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 4174666 (on Assembly GRCh38)
• Chr19: 4174663 (on Assembly GRCh37)

Preferred name:

NM_016539.4(SIRT6):c.1019C>T (p.Ala340Val)

HGVS:

• NC_000019.10:g.4174666G>A
• NG_047153.1:g.12934C>T
• NM_001193285.3:c.938C>T
• NM_001321058.2:c.803C>T
• NM_001321059.2:c.836C>T
• NM_001321060.2:c.*232C>T
• NM_001321061.2:c.722C>T
• NM_001321062.2:c.614C>T
• NM_001321063.2:c.*232C>T
• NM_001321064.2:c.*232C>T
• NM_016539.4:c.1019C>TMANE SELECT
• NP_001180214.1:p.Ala313Val
• NP_001307987.1:p.Ala268Val
• NP_001307988.1:p.Ala279Val
• NP_001307990.1:p.Ala241Val
• NP_001307991.1:p.Ala205Val
• NP_057623.2:p.Ala340Val
• NC_000019.9:g.4174663G>A
• NM_016539.2:c.1019C>T

This HGVS expression did not pass validation

Protein change:

A205V

Molecular consequence:

• NM_001321060.2:c.*232C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001321063.2:c.*232C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001321064.2:c.*232C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001193285.3:c.938C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321058.2:c.803C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321059.2:c.836C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321061.2:c.722C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321062.2:c.614C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_016539.4:c.1019C>T - missense variant - [Sequence Ontology: SO:0001583]