ClinVar

NM_005097.4(LGI1):c.1A>G (p.Met1Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.33

Genomic location:

• Chr10: 93758145 (on Assembly GRCh38)
• Chr10: 95517902 (on Assembly GRCh37)

Preferred name:

NM_005097.4(LGI1):c.1A>G (p.Met1Val)

HGVS:

• NC_000010.11:g.93758145A>G
• NG_011832.1:g.5337A>G
• NM_001308275.2:c.1A>G
• NM_001308276.2:c.1A>G
• NM_005097.3:c.1A>G
• NM_005097.4:c.1A>GMANE SELECT
• NP_001295204.1:p.Met1Val
• NP_001295205.1:p.Met1Val
• NP_005088.1:p.Met1Val
• NC_000010.10:g.95517902A>G
• NM_005097.2:c.1A>G
• NR_131777.2:n.210A>G

This HGVS expression did not pass validation

Protein change:

M1V

Links:

dbSNP: rs202204627

NCBI 1000 Genomes Browser:

rs202204627

Molecular consequence:

• NM_001308275.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001308276.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_005097.4:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001308275.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001308276.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_005097.4:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_131777.2:n.210A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1