ClinVar

NM_000208.4(INSR):c.3193C>G (p.Leu1065Val)

Gene:

INSR:insulin receptor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 7125348 (on Assembly GRCh38)
• Chr19: 7125359 (on Assembly GRCh37)

Preferred name:

NM_000208.4(INSR):c.3193C>G (p.Leu1065Val)

HGVS:

• NC_000019.10:g.7125348G>C
• NG_008852.2:g.173653C>G
• NM_000208.4:c.3193C>GMANE SELECT
• NM_001079817.3:c.3157C>G
• NP_000199.2:p.Leu1065Val
• NP_001073285.1:p.Leu1053Val
• NC_000019.9:g.7125359G>C
• NM_000208.2:c.3193C>G
• P06213:p.Leu1065Val

This HGVS expression did not pass validation

Protein change:

L1053V

Links:

UniProtKB: P06213#VAR_041432; dbSNP: rs56395521

NCBI 1000 Genomes Browser:

rs56395521

Molecular consequence:

• NM_000208.4:c.3193C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001079817.3:c.3157C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2