ClinVar

NM_002042.5(GABRR1):c.1109C>T (p.Thr370Ile)

Gene:

GABRR1:gamma-aminobutyric acid type A receptor subunit rho1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q15

Genomic location:

• Chr6: 89180329 (on Assembly GRCh38)
• Chr6: 89890048 (on Assembly GRCh37)

Preferred name:

NM_002042.5(GABRR1):c.1109C>T (p.Thr370Ile)

HGVS:

• NC_000006.12:g.89180329G>A
• NM_001256703.1:c.1058C>T
• NM_001256704.1:c.848C>T
• NM_001256705.1:c.1058C>T
• NM_001267582.2:c.848C>T
• NM_002042.5:c.1109C>TMANE SELECT
• NP_001243632.1:p.Thr353Ile
• NP_001243633.1:p.Thr283Ile
• NP_001243634.1:p.Thr353Ile
• NP_001254511.1:p.Thr283Ile
• NP_002033.2:p.Thr370Ile
• NC_000006.11:g.89890048G>A
• NM_002042.3:c.1109C>T

This HGVS expression did not pass validation

Protein change:

T283I

Molecular consequence:

• NM_001256703.1:c.1058C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256704.1:c.848C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256705.1:c.1058C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001267582.2:c.848C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002042.5:c.1109C>T - missense variant - [Sequence Ontology: SO:0001583]