ClinVar

NM_021146.4(ANGPTL7):c.691C>T (p.Arg231Cys)

Genes:

LOC129388452:MPRA-validated peak73 silencer [Gene]
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: 11194479 (on Assembly GRCh38)
• Chr1: 11254536 (on Assembly GRCh37)

Preferred name:

NM_021146.4(ANGPTL7):c.691C>T (p.Arg231Cys)

HGVS:

• NC_000001.11:g.11194479C>T
• NG_033239.1:g.73073G>A
• NG_154086.1:g.101C>T
• NM_001386500.1:c.4253+4779G>A
• NM_001386501.1:c.3005+4779G>A
• NM_004958.4:c.4253+4779G>AMANE SELECT
• NM_021146.4:c.691C>TMANE SELECT
• NP_066969.1:p.Arg231Cys
• LRG_734:g.73073G>A
• NC_000001.10:g.11254536C>T
• NM_021146.2:c.691C>T

This HGVS expression did not pass validation

Protein change:

R231C

Molecular consequence:

• NM_001386500.1:c.4253+4779G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001386501.1:c.3005+4779G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_004958.4:c.4253+4779G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_021146.4:c.691C>T - missense variant - [Sequence Ontology: SO:0001583]