ClinVar

NM_138704.4(NSMCE3):c.285C>T (p.Phe95=)

Genes:

NSMCE3:NSE3 homolog, SMC5-SMC6 complex component [Gene - OMIM - HGNC]
ENTREP2:endosomal transmembrane epsin interactor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q13.1

Genomic location:

• Chr15: 29269421 (on Assembly GRCh38)
• Chr15: 29561625 (on Assembly GRCh37)

Preferred name:

NM_138704.4(NSMCE3):c.285C>T (p.Phe95=)

HGVS:

• NC_000015.10:g.29269421G>A
• NG_053143.1:g.5409C>T
• NG_130600.1:g.405G>A
• NM_001387214.1:c.277-16943C>T
• NM_001387215.1:c.-12-16943C>T
• NM_001387216.1:c.-12-16943C>T
• NM_001387217.1:c.-12-16943C>T
• NM_015307.2:c.277-16943C>TMANE SELECT
• NM_138704.4:c.285C>TMANE SELECT
• NP_619649.1:p.Phe95=
• NC_000015.9:g.29561625G>A
• NC_000015.9:g.29561625G>A
• NM_138704.3:c.285C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs772324482

NCBI 1000 Genomes Browser:

rs772324482

Molecular consequence:

• NM_001387214.1:c.277-16943C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001387215.1:c.-12-16943C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001387216.1:c.-12-16943C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001387217.1:c.-12-16943C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_015307.2:c.277-16943C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_138704.4:c.285C>T - synonymous variant - [Sequence Ontology: SO:0001819]