ClinVar

NM_021146.4(ANGPTL7):c.1034A>G (p.Lys345Arg)

Genes:

ANGPTL7:angiopoietin like 7 [Gene - OMIM - HGNC]
MTOR:mechanistic target of rapamycin kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.22

Genomic location:

• Chr1: 11195016 (on Assembly GRCh38)
• Chr1: 11255073 (on Assembly GRCh37)

Preferred name:

NM_021146.4(ANGPTL7):c.1034A>G (p.Lys345Arg)

HGVS:

• NC_000001.11:g.11195016A>G
• NG_033239.1:g.72536T>C
• NM_001386500.1:c.4253+4242T>C
• NM_001386501.1:c.3005+4242T>C
• NM_004958.4:c.4253+4242T>CMANE SELECT
• NM_021146.4:c.1034A>GMANE SELECT
• NP_066969.1:p.Lys345Arg
• LRG_734:g.72536T>C
• NC_000001.10:g.11255073A>G
• NM_021146.2:c.1034A>G

This HGVS expression did not pass validation

Protein change:

K345R

Molecular consequence:

• NM_001386500.1:c.4253+4242T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001386501.1:c.3005+4242T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_004958.4:c.4253+4242T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_021146.4:c.1034A>G - missense variant - [Sequence Ontology: SO:0001583]