ClinVar

NM_001122681.2(SH3BP2):c.97C>T (p.Leu33=)

Gene:

SH3BP2:SH3 domain binding protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.3

Genomic location:

• Chr4: 2820714 (on Assembly GRCh38)
• Chr4: 2822441 (on Assembly GRCh37)

Preferred name:

NM_001122681.2(SH3BP2):c.97C>T (p.Leu33=)

HGVS:

• NC_000004.12:g.2820714C>T
• NG_011609.1:g.32692C>T
• NM_001122681.2:c.97C>TMANE SELECT
• NM_001145855.2:c.181C>T
• NM_001145856.2:c.268C>T
• NM_003023.4:c.97C>T
• NP_001116153.1:p.Leu33=
• NP_001139327.1:p.Leu61=
• NP_001139328.1:p.Leu90=
• NP_003014.3:p.Leu33=
• LRG_1334t1:c.97C>T
• LRG_1334t2:c.181C>T
• LRG_1334:g.32692C>T
• LRG_1334p1:p.Leu33=
• LRG_1334p2:p.Leu61=
• NC_000004.11:g.2822441C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs774809755

NCBI 1000 Genomes Browser:

rs774809755

Molecular consequence:

• NM_001122681.2:c.97C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001145855.2:c.181C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001145856.2:c.268C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003023.4:c.97C>T - synonymous variant - [Sequence Ontology: SO:0001819]