ClinVar

NM_013296.5(GPSM2):c.186C>T (p.Ser62=)

Gene:

GPSM2:G protein signaling modulator 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p13.3

Genomic location:

• Chr1: 108896993 (on Assembly GRCh38)
• Chr1: 109439615 (on Assembly GRCh37)

Preferred name:

NM_013296.5(GPSM2):c.186C>T (p.Ser62=)

HGVS:

• NC_000001.11:g.108896993C>T
• NG_028108.2:g.26644C>T
• NM_001321038.2:c.186C>T
• NM_001321039.3:c.186C>T
• NM_013296.5:c.186C>TMANE SELECT
• NP_001307967.1:p.Ser62=
• NP_001307968.1:p.Ser62=
• NP_037428.3:p.Ser62=
• LRG_1373t1:c.186C>T
• LRG_1373:g.26644C>T
• LRG_1373p1:p.Ser62=
• NC_000001.10:g.109439615C>T
• NM_013296.4:c.186C>T
• p.Ser62Ser

This HGVS expression did not pass validation

Links:

dbSNP: rs199575734

NCBI 1000 Genomes Browser:

rs199575734

Molecular consequence:

• NM_001321038.2:c.186C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001321039.3:c.186C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_013296.5:c.186C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1