ClinVar

NM_005097.4(LGI1):c.69A>G (p.Leu23=)

Gene:

LGI1:leucine rich glioma inactivated 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.33

Genomic location:

• Chr10: 93758213 (on Assembly GRCh38)
• Chr10: 95517970 (on Assembly GRCh37)

Preferred name:

NM_005097.4(LGI1):c.69A>G (p.Leu23=)

HGVS:

• NC_000010.11:g.93758213A>G
• NG_011832.1:g.5405A>G
• NM_001308275.2:c.69A>G
• NM_001308276.2:c.69A>G
• NM_005097.4:c.69A>GMANE SELECT
• NP_001295204.1:p.Leu23=
• NP_001295205.1:p.Leu23=
• NP_005088.1:p.Leu23=
• NC_000010.10:g.95517970A>G
• NM_005097.2:c.69A>G
• NR_131777.2:n.278A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs868635600

NCBI 1000 Genomes Browser:

rs868635600

Molecular consequence:

• NR_131777.2:n.278A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001308275.2:c.69A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001308276.2:c.69A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005097.4:c.69A>G - synonymous variant - [Sequence Ontology: SO:0001819]