ClinVar

NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)

Gene:

SHOC2:SHOC2 leucine rich repeat scaffold protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q25.2

Genomic location:

• Chr10: 110964362 (on Assembly GRCh38)
• Chr10: 112724120 (on Assembly GRCh37)

Preferred name:

NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)

Other names:

p.S2G:AGT>GGT; NM_007373.3(SHOC2):c.4A>G

HGVS:

• NC_000010.11:g.110964362A>G
• NG_028922.1:g.49820A>G
• NM_001269039.3:c.4A>G
• NM_001324336.2:c.4A>G
• NM_001324337.2:c.4A>G
• NM_007373.4:c.4A>GMANE SELECT
• NP_001255968.1:p.Ser2Gly
• NP_001311265.1:p.Ser2Gly
• NP_001311266.1:p.Ser2Gly
• NP_001311266.1:p.Ser2Gly
• NP_031399.2:p.Ser2Gly
• NP_031399.2:p.Ser2Gly
• LRG_753t1:c.4A>G
• LRG_753:g.49820A>G
• LRG_753p1:p.Ser2Gly
• NC_000010.10:g.112724120A>G
• NM_001269039.1:c.4A>G
• NM_001269039.2:c.4A>G
• NM_001324337.1:c.4A>G
• NM_007373.3:c.4A>G
• Q9UQ13:p.Ser2Gly
• c.4A>G

This HGVS expression did not pass validation

Protein change:

S2G; SER2GLY

Links:

UniProtKB: Q9UQ13#VAR_060199; OMIM: 602775.0001; dbSNP: rs267607048

NCBI 1000 Genomes Browser:

rs267607048

Molecular consequence:

• NM_001269039.3:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324336.2:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324337.2:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_007373.4:c.4A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3