ClinVar

NM_001038603.3(MARVELD2):c.291C>T (p.Pro97=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q13.2

Genomic location:

• Chr5: 69419676 (on Assembly GRCh38)
• Chr5: 68715503 (on Assembly GRCh37)

Preferred name:

NM_001038603.3(MARVELD2):c.291C>T (p.Pro97=)

HGVS:

• NC_000005.10:g.69419676C>T
• NG_017201.2:g.9565C>T
• NM_001038603.3:c.291C>TMANE SELECT
• NM_001244734.2:c.291C>T
• NP_001033692.2:p.Pro97=
• NP_001231663.1:p.Pro97=
• LRG_1380t1:c.291C>T
• LRG_1380:g.9565C>T
• LRG_1380p1:p.Pro97=
• NC_000005.9:g.68715503C>T
• NM_001038603.2:c.291C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs757531488

NCBI 1000 Genomes Browser:

rs757531488

Molecular consequence:

• NM_001038603.3:c.291C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001244734.2:c.291C>T - synonymous variant - [Sequence Ontology: SO:0001819]