ClinVar

NM_007373.4(SHOC2):c.90C>T (p.Ala30=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q25.2

Genomic location:

• Chr10: 110964448 (on Assembly GRCh38)
• Chr10: 112724206 (on Assembly GRCh37)

Preferred name:

NM_007373.4(SHOC2):c.90C>T (p.Ala30=)

HGVS:

• NC_000010.11:g.110964448C>T
• NG_028922.1:g.49906C>T
• NM_001269039.3:c.90C>T
• NM_001324336.2:c.90C>T
• NM_001324337.2:c.90C>T
• NM_007373.4:c.90C>TMANE SELECT
• NP_001255968.1:p.Ala30=
• NP_001311265.1:p.Ala30=
• NP_001311266.1:p.Ala30=
• NP_031399.2:p.Ala30=
• NP_031399.2:p.Ala30=
• LRG_753t1:c.90C>T
• LRG_753:g.49906C>T
• LRG_753p1:p.Ala30=
• NC_000010.10:g.112724206C>T
• NM_007373.3:c.90C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001269039.3:c.90C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001324336.2:c.90C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001324337.2:c.90C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_007373.4:c.90C>T - synonymous variant - [Sequence Ontology: SO:0001819]