ClinVar

NM_001038603.3(MARVELD2):c.215C>G (p.Ala72Gly)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q13.2

Genomic location:

• Chr5: 69419600 (on Assembly GRCh38)
• Chr5: 68715427 (on Assembly GRCh37)

Preferred name:

NM_001038603.3(MARVELD2):c.215C>G (p.Ala72Gly)

HGVS:

• NC_000005.10:g.69419600C>G
• NG_017201.2:g.9489C>G
• NM_001038603.3:c.215C>GMANE SELECT
• NM_001244734.2:c.215C>G
• NP_001033692.2:p.Ala72Gly
• NP_001231663.1:p.Ala72Gly
• LRG_1380t1:c.215C>G
• LRG_1380:g.9489C>G
• LRG_1380p1:p.Ala72Gly
• NC_000005.9:g.68715427C>G
• NM_001038603.2:c.215C>G

This HGVS expression did not pass validation

Protein change:

A72G

Links:

dbSNP: rs112938244

NCBI 1000 Genomes Browser:

rs112938244

Molecular consequence:

• NM_001038603.3:c.215C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001244734.2:c.215C>G - missense variant - [Sequence Ontology: SO:0001583]