ClinVar

NM_001278064.2(GRM1):c.210C>T (p.Ile70=)

Gene:

GRM1:glutamate metabotropic receptor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q24.3

Genomic location:

• Chr6: 146029727 (on Assembly GRCh38)
• Chr6: 146350863 (on Assembly GRCh37)

Preferred name:

NM_001278064.2(GRM1):c.210C>T (p.Ile70=)

HGVS:

• NC_000006.12:g.146029727C>T
• NG_012839.2:g.7082C>T
• NM_001278064.2:c.210C>TMANE SELECT
• NM_001278065.2:c.210C>T
• NM_001278066.1:c.210C>T
• NM_001278067.1:c.210C>T
• NP_001264993.1:p.Ile70=
• NP_001264994.1:p.Ile70=
• NP_001264995.1:p.Ile70=
• NP_001264996.1:p.Ile70=
• NC_000006.11:g.146350863C>T
• NC_000006.11:g.146350863C>T
• NG_012839.1:g.7082C>T
• NM_001278064.1:c.210C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs112221974

NCBI 1000 Genomes Browser:

rs112221974

Molecular consequence:

• NM_001278064.2:c.210C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001278065.2:c.210C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001278066.1:c.210C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001278067.1:c.210C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1