ClinVar

NM_001171508.2(MCFD2):c.-6-8078G>C

Genes:

MCFD2:multiple coagulation factor deficiency 2, ER cargo receptor complex subunit [Gene - OMIM - HGNC]
TTC7A:tetratricopeptide repeat domain 7A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

• Chr2: 46917255 (on Assembly GRCh38)
• Chr2: 47144394 (on Assembly GRCh37)

Preferred name:

NM_001171508.2(MCFD2):c.-6-8078G>C

HGVS:

• NC_000002.12:g.46917255C>G
• NG_016428.2:g.29601G>C
• NG_034143.2:g.6127C>G
• NM_001171508.2:c.-6-8078G>C
• NM_001171511.3:c.93-9286G>C
• NM_001288953.2:c.60C>G
• NP_001275882.1:p.Leu20=
• LRG_566t3:c.-6-8078G>C
• LRG_1323:g.6127C>G
• LRG_566:g.29601G>C
• NC_000002.11:g.47144394C>G
• NM_001288953.1:c.60C>G

This HGVS expression did not pass validation

Links:

dbSNP: rs76192704

NCBI 1000 Genomes Browser:

rs76192704

Molecular consequence:

• NM_001171508.2:c.-6-8078G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001171511.3:c.93-9286G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001288953.2:c.60C>G - synonymous variant - [Sequence Ontology: SO:0001819]