ClinVar

NM_001038603.3(MARVELD2):c.497C>T (p.Thr166Ile)

Gene:

MARVELD2:MARVEL domain containing 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q13.2

Genomic location:

• Chr5: 69419882 (on Assembly GRCh38)
• Chr5: 68715709 (on Assembly GRCh37)

Preferred name:

NM_001038603.3(MARVELD2):c.497C>T (p.Thr166Ile)

HGVS:

• NC_000005.10:g.69419882C>T
• NG_017201.2:g.9771C>T
• NM_001038603.3:c.497C>TMANE SELECT
• NM_001244734.2:c.497C>T
• NP_001033692.2:p.Thr166Ile
• NP_001231663.1:p.Thr166Ile
• LRG_1380t1:c.497C>T
• LRG_1380:g.9771C>T
• LRG_1380p1:p.Thr166Ile
• NC_000005.9:g.68715709C>T
• NG_017201.1:g.9771C>T
• NM_001038603.2:c.497C>T

This HGVS expression did not pass validation

Protein change:

T166I

Links:

dbSNP: rs772742922

NCBI 1000 Genomes Browser:

rs772742922

Molecular consequence:

• NM_001038603.3:c.497C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001244734.2:c.497C>T - missense variant - [Sequence Ontology: SO:0001583]