ClinVar

NM_016539.4(SIRT6):c.742C>T (p.Arg248Cys)

Gene:

SIRT6:sirtuin 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.3

Genomic location:

• Chr19: 4174943 (on Assembly GRCh38)
• Chr19: 4174940 (on Assembly GRCh37)

Preferred name:

NM_016539.4(SIRT6):c.742C>T (p.Arg248Cys)

HGVS:

• NC_000019.10:g.4174943G>A
• NG_047153.1:g.12657C>T
• NM_001193285.3:c.661C>T
• NM_001321058.2:c.526C>T
• NM_001321059.2:c.559C>T
• NM_001321060.2:c.702C>T
• NM_001321061.2:c.445C>T
• NM_001321062.2:c.337C>T
• NM_001321063.2:c.519C>T
• NM_001321064.2:c.486C>T
• NM_016539.4:c.742C>TMANE SELECT
• NP_001180214.1:p.Arg221Cys
• NP_001307987.1:p.Arg176Cys
• NP_001307988.1:p.Arg187Cys
• NP_001307989.1:p.Thr234=
• NP_001307990.1:p.Arg149Cys
• NP_001307991.1:p.Arg113Cys
• NP_001307992.1:p.Thr173=
• NP_001307993.1:p.Thr162=
• NP_057623.2:p.Arg248Cys
• NC_000019.9:g.4174940G>A
• NM_016539.2:c.742C>T

This HGVS expression did not pass validation

Protein change:

R113C

Links:

dbSNP: rs201886868

NCBI 1000 Genomes Browser:

rs201886868

Molecular consequence:

• NM_001193285.3:c.661C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321058.2:c.526C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321059.2:c.559C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321061.2:c.445C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321062.2:c.337C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_016539.4:c.742C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321060.2:c.702C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001321063.2:c.519C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001321064.2:c.486C>T - synonymous variant - [Sequence Ontology: SO:0001819]