ClinVar

NM_001031709.3(RNLS):c.111G>C (p.Glu37Asp)

Genes:

LOC130004283:ATAC-STARR-seq lymphoblastoid active region 3723 [Gene]
LIPJ:lipase family member J [Gene - OMIM - HGNC]
RNLS:renalase, FAD dependent amine oxidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.31

Genomic location:

• Chr10: 88583080 (on Assembly GRCh38)
• Chr10: 90342837 (on Assembly GRCh37)

Preferred name:

NM_001031709.3(RNLS):c.111G>C (p.Glu37Asp)

HGVS:

• NC_000010.11:g.88583080C>G
• NM_001031709.3:c.111G>CMANE SELECT
• NM_018363.4:c.111G>C
• NP_001026879.2:p.Glu37Asp
• NP_060833.1:p.Glu37Asp
• NC_000010.10:g.90342837C>G
• NM_001031709.2:c.111G>C
• NR_172141.1:n.174C>G

This HGVS expression did not pass validation

Protein change:

E37D

Links:

dbSNP: rs2296545

NCBI 1000 Genomes Browser:

rs2296545

Molecular consequence:

• NM_001031709.3:c.111G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_018363.4:c.111G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_172141.1:n.174C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Functional consequence:

variation affecting protein function [Variation Ontology: 0003]