ClinVar

NM_020458.4(TTC7A):c.15C>T (p.Gly5=)

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: 46941556 (on Assembly GRCh38)
• Chr2: 47168695 (on Assembly GRCh37)

Preferred name:

NM_020458.4(TTC7A):c.15C>T (p.Gly5=)

HGVS:

• NC_000002.12:g.46941556C>T
• NG_016428.2:g.5300G>A
• NG_034143.2:g.30428C>T
• NM_001171508.2:c.-7+16G>A
• NM_001171511.3:c.92+16G>A
• NM_001288951.2:c.15C>T
• NM_001288953.2:c.83-8807C>T
• NM_001288955.2:c.-890C>T
• NM_020458.4:c.15C>TMANE SELECT
• NP_001275880.1:p.Gly5=
• NP_065191.2:p.Gly5=
• LRG_1323t1:c.15C>T
• LRG_566t3:c.-7+16G>A
• LRG_1323:g.30428C>T
• LRG_1323p1:p.Gly5=
• LRG_566:g.5300G>A
• NC_000002.11:g.47168695C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001288955.2:c.-890C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001171508.2:c.-7+16G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001171511.3:c.92+16G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001288953.2:c.83-8807C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001288951.2:c.15C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020458.4:c.15C>T - synonymous variant - [Sequence Ontology: SO:0001819]