ClinVar

NM_000208.4(INSR):c.3255C>T (p.His1085=)

Gene:

INSR:insulin receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 7125286 (on Assembly GRCh38)
• Chr19: 7125297 (on Assembly GRCh37)

Preferred name:

NM_000208.4(INSR):c.3255C>T (p.His1085=)

HGVS:

• NC_000019.10:g.7125286G>A
• NG_008852.2:g.173715C>T
• NM_000208.4:c.3255C>TMANE SELECT
• NM_001079817.3:c.3219C>T
• NP_000199.2:p.His1085=
• NP_001073285.1:p.His1073=
• NC_000019.9:g.7125297G>A
• NM_000208.2:c.3255C>T
• NM_001079817.1:c.3219C>T
• p.His1073His

This HGVS expression did not pass validation

Links:

dbSNP: rs1799817

NCBI 1000 Genomes Browser:

rs1799817

Molecular consequence:

• NM_000208.4:c.3255C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001079817.3:c.3219C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

2