ClinVar

NM_020458.4(TTC7A):c.106C>T (p.Leu36=)

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: 46941647 (on Assembly GRCh38)
• Chr2: 47168786 (on Assembly GRCh37)

Preferred name:

NM_020458.4(TTC7A):c.106C>T (p.Leu36=)

HGVS:

• NC_000002.12:g.46941647C>T
• NG_016428.2:g.5209G>A
• NG_034143.2:g.30519C>T
• NM_001171508.2:c.-82G>A
• NM_001171511.3:c.17G>A
• NM_001288951.2:c.106C>T
• NM_001288953.2:c.83-8716C>T
• NM_001288955.2:c.-799C>T
• NM_020458.4:c.106C>TMANE SELECT
• NP_001164982.1:p.Ser6Asn
• NP_001275880.1:p.Leu36=
• NP_065191.2:p.Leu36=
• LRG_1323t1:c.106C>T
• LRG_566t3:c.-82G>A
• LRG_1323:g.30519C>T
• LRG_1323p1:p.Leu36=
• LRG_566:g.5209G>A
• NC_000002.11:g.47168786C>T

This HGVS expression did not pass validation

Protein change:

S6N

Molecular consequence:

• NM_001171508.2:c.-82G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001288955.2:c.-799C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001288953.2:c.83-8716C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001171511.3:c.17G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001288951.2:c.106C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020458.4:c.106C>T - synonymous variant - [Sequence Ontology: SO:0001819]