ClinVar

NM_000207.3(INS):c.153A>C (p.Thr51=)

Genes:

INS-IGF2:INS-IGF2 readthrough [Gene - HGNC]
INS:insulin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.5

Genomic location:

• Chr11: 2160819 (on Assembly GRCh38)
• Chr11: 2182049 (on Assembly GRCh37)

Preferred name:

NM_000207.3(INS):c.153A>C (p.Thr51=)

HGVS:

• NC_000011.10:g.2160819T>G
• NG_007114.1:g.5376A>C
• NG_050578.1:g.5391A>C
• NM_000207.3:c.153A>CMANE SELECT
• NM_001042376.3:c.153A>C
• NM_001185097.2:c.153A>C
• NM_001185098.2:c.153A>C
• NM_001291897.2:c.153A>C
• NP_000198.1:p.Thr51=
• NP_001035835.1:p.Thr51=
• NP_001172026.1:p.Thr51=
• NP_001172027.1:p.Thr51=
• NP_001278826.1:p.Thr51=
• NC_000011.9:g.2182049T>G
• NC_000011.9:g.2182049T>G
• NM_000207.2:c.153A>C
• NR_003512.4:n.212A>C

This HGVS expression did not pass validation

Links:

dbSNP: rs773789432

NCBI 1000 Genomes Browser:

rs773789432

Molecular consequence:

• NR_003512.4:n.212A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000207.3:c.153A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001042376.3:c.153A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001185097.2:c.153A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001185098.2:c.153A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001291897.2:c.153A>C - synonymous variant - [Sequence Ontology: SO:0001819]