ClinVar

NM_001288953.2(TTC7A):c.7C>T (p.Pro3Ser)

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: 46917202 (on Assembly GRCh38)
• Chr2: 47144341 (on Assembly GRCh37)

Preferred name:

NM_001288953.2(TTC7A):c.7C>T (p.Pro3Ser)

HGVS:

• NC_000002.12:g.46917202C>T
• NG_016428.2:g.29654G>A
• NG_034143.2:g.6074C>T
• NM_001171508.2:c.-6-8025G>A
• NM_001171511.3:c.93-9233G>A
• NM_001288953.2:c.7C>T
• NP_001275882.1:p.Pro3Ser
• LRG_566t3:c.-6-8025G>A
• LRG_1323:g.6074C>T
• LRG_566:g.29654G>A
• NC_000002.11:g.47144341C>T

This HGVS expression did not pass validation

Protein change:

P3S

Links:

dbSNP: rs1300459632

NCBI 1000 Genomes Browser:

rs1300459632

Molecular consequence:

• NM_001171508.2:c.-6-8025G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001171511.3:c.93-9233G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001288953.2:c.7C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1