ClinVar

NM_178335.3(CCDC50):c.49+214G>T

Genes:

CCDC50:coiled-coil domain containing 50 [Gene - OMIM - HGNC]
UTS2B:urotensin 2B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q28

Genomic location:

• Chr3: 191329937 (on Assembly GRCh38)
• Chr3: 191047726 (on Assembly GRCh37)

Preferred name:

NM_178335.3(CCDC50):c.49+214G>T

HGVS:

• NC_000003.12:g.191329937G>T
• NG_008994.1:g.5853G>T
• NG_101438.1:g.475G>T
• NM_174908.4:c.49+214G>T
• NM_178335.3:c.49+214G>TMANE SELECT
• NM_198152.5:c.-665+477C>AMANE SELECT
• LRG_1382t1:c.49+214G>T
• LRG_1382:g.5853G>T
• NC_000003.11:g.191047726G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs112686490

NCBI 1000 Genomes Browser:

rs112686490

Molecular consequence:

• NM_174908.4:c.49+214G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_178335.3:c.49+214G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_198152.5:c.-665+477C>A - intron variant - [Sequence Ontology: SO:0001627]