ClinVar

NM_015541.2(LRIG1):c.3241G>A (p.Gly1081Arg)

Genes:

SLC25A26:solute carrier family 25 (S-adenosylmethionine carrier), member 26 [Gene - OMIM]
LRIG1:leucine-rich repeats and immunoglobulin-like domains 1 [Gene - OMIM]

Variant type:

single nucleotide variant

Cytogenetic location:

3p14.1

Genomic location:

• Chr3: 66380304 (on Assembly GRCh38)
• Chr3: 66430728 (on Assembly GRCh37)
• Chr3: 66513418 (on Assembly NCBI36)

Preferred name:

NM_015541.2(LRIG1):c.3241G>A (p.Gly1081Arg)

HGVS:

• NC_000003.12:g.66380304C>T
• NM_015541.2:c.3241G>A
• NP_056356.2:p.Gly1081Arg
• NC_000003.10:g.66513418C>T
• NC_000003.11:g.66430728C>T
• NM_001164796.1:c.*1120+d1377C>T
• NM_173471.2:c.*1120+d1377C>T
• NM_173471.3:c.*1120+d1377C>T
• NR_028475.1:c.1841+d1377C>T

This HGVS expression did not pass validation

Protein change:

G1081R

Links:

dbSNP: rs267599926

GMAF:

0.0004(T), 267599926

NCBI 1000 Genomes Browser:

rs267599926

Molecular consequence:

• NM_015541.2:c.3241G>A - missense variant - [Sequence Ontology: SO:0001583]