ClinVar

NM_001294.4(CLPTM1):c.400G>A (p.Gly134Ser)

Gene:

CLPTM1:CLPTM1 regulator of GABA type A receptor forward trafficking [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.32

Genomic location:

• Chr19: 44974529 (on Assembly GRCh38)
• Chr19: 45477786 (on Assembly GRCh37)

Preferred name:

NM_001294.4(CLPTM1):c.400G>A (p.Gly134Ser)

HGVS:

• NC_000019.10:g.44974529G>A
• NM_001282175.2:c.358G>A
• NM_001282176.2:c.94G>A
• NM_001294.4:c.400G>AMANE SELECT
• NP_001269104.1:p.Gly120Ser
• NP_001269105.1:p.Gly32Ser
• NP_001285.1:p.Gly134Ser
• NC_000019.9:g.45477786G>A
• NM_001294.2:c.400G>A

This HGVS expression did not pass validation

Protein change:

G120S

Molecular consequence:

• NM_001282175.2:c.358G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282176.2:c.94G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001294.4:c.400G>A - missense variant - [Sequence Ontology: SO:0001583]