ClinVar

NM_001038603.3(MARVELD2):c.1308T>C (p.Pro436=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q13.2

Genomic location:

• Chr5: 69432652 (on Assembly GRCh38)
• Chr5: 68728479 (on Assembly GRCh37)

Preferred name:

NM_001038603.3(MARVELD2):c.1308T>C (p.Pro436=)

HGVS:

• NC_000005.10:g.69432652T>C
• NG_017201.2:g.22541T>C
• NM_001038603.3:c.1308T>CMANE SELECT
• NM_001244734.2:c.1272T>C
• NP_001033692.2:p.Pro436=
• NP_001231663.1:p.Pro424=
• LRG_1380t1:c.1308T>C
• LRG_1380:g.22541T>C
• LRG_1380p1:p.Pro436=
• NC_000005.9:g.68728479T>C
• NG_017201.1:g.22541T>C
• NM_001038603.2:c.1308T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs367611336

NCBI 1000 Genomes Browser:

rs367611336

Molecular consequence:

• NM_001038603.3:c.1308T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001244734.2:c.1272T>C - synonymous variant - [Sequence Ontology: SO:0001819]