ClinVar

NM_016539.4(SIRT6):c.924C>G (p.Asn308Lys)

Gene:

SIRT6:sirtuin 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 4174761 (on Assembly GRCh38)
• Chr19: 4174758 (on Assembly GRCh37)

Preferred name:

NM_016539.4(SIRT6):c.924C>G (p.Asn308Lys)

HGVS:

• NC_000019.10:g.4174761G>C
• NG_047153.1:g.12839C>G
• NM_001193285.3:c.843C>G
• NM_001321058.2:c.708C>G
• NM_001321059.2:c.741C>G
• NM_001321060.2:c.*137C>G
• NM_001321061.2:c.627C>G
• NM_001321062.2:c.519C>G
• NM_001321063.2:c.*137C>G
• NM_001321064.2:c.*137C>G
• NM_016539.4:c.924C>GMANE SELECT
• NP_001180214.1:p.Asn281Lys
• NP_001307987.1:p.Asn236Lys
• NP_001307988.1:p.Asn247Lys
• NP_001307990.1:p.Asn209Lys
• NP_001307991.1:p.Asn173Lys
• NP_057623.2:p.Asn308Lys
• NC_000019.9:g.4174758G>C
• NM_016539.3:c.924C>G

This HGVS expression did not pass validation

Protein change:

N173K

Links:

dbSNP: rs201141490

NCBI 1000 Genomes Browser:

rs201141490

Molecular consequence:

• NM_001321060.2:c.*137C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001321063.2:c.*137C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001321064.2:c.*137C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001193285.3:c.843C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321058.2:c.708C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321059.2:c.741C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321061.2:c.627C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321062.2:c.519C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_016539.4:c.924C>G - missense variant - [Sequence Ontology: SO:0001583]