ClinVar

NM_000128.4(F11):c.429C>T (p.Asp143=)

Gene:

F11:coagulation factor XI [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q35.2

Genomic location:

• Chr4: 186274219 (on Assembly GRCh38)
• Chr4: 187195373 (on Assembly GRCh37)

Preferred name:

NM_000128.4(F11):c.429C>T (p.Asp143=)

HGVS:

• NC_000004.12:g.186274219C>T
• NG_008051.1:g.13256C>T
• NM_000128.4:c.429C>TMANE SELECT
• NM_001354804.2:c.429C>T
• NP_000119.1:p.Asp143=
• NP_000119.1:p.Asp143=
• NP_001341733.1:p.Asp143=
• LRG_583t1:c.429C>T
• LRG_583:g.13256C>T
• LRG_583p1:p.Asp143=
• NC_000004.11:g.187195373C>T
• NM_000128.3:c.429C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs5973

NCBI 1000 Genomes Browser:

rs5973

Molecular consequence:

• NM_000128.4:c.429C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001354804.2:c.429C>T - synonymous variant - [Sequence Ontology: SO:0001819]