ClinVar

NM_001318895.3(FHL2):c.120C>T (p.Cys40=)

Gene:

FHL2:four and a half LIM domains 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q12.2

Genomic location:

• Chr2: 105386397 (on Assembly GRCh38)
• Chr2: 106002854 (on Assembly GRCh37)

Preferred name:

NM_001318895.3(FHL2):c.120C>T (p.Cys40=)

HGVS:

• NC_000002.12:g.105386397G>A
• NG_008844.2:g.57377C>T
• NM_001039492.3:c.120C>T
• NM_001318894.1:c.120C>T
• NM_001318895.3:c.120C>TMANE SELECT
• NM_001318896.2:c.120C>T
• NM_001318897.2:c.-48C>T
• NM_001318898.2:c.-48C>T
• NM_001318899.2:c.-327C>T
• NM_001374399.1:c.120C>T
• NM_001450.4:c.120C>T
• NM_201555.3:c.120C>T
• NM_201557.5:c.120C>T
• NP_001034581.1:p.Cys40=
• NP_001305823.1:p.Cys40=
• NP_001305824.1:p.Cys40=
• NP_001305825.1:p.Cys40=
• NP_001361328.1:p.Cys40=
• NP_001441.4:p.Cys40=
• NP_963849.1:p.Cys40=
• NP_963851.2:p.Cys40=
• LRG_740t1:c.120C>T
• LRG_740t2:c.120C>T
• LRG_740t3:c.120C>T
• LRG_740:g.57377C>T
• LRG_740p1:p.Cys40=
• LRG_740p2:p.Cys40=
• LRG_740p3:p.Cys40=
• NC_000002.11:g.106002854G>A
• NM_201555.1:c.120C>T
• NM_201557.3:c.120C>T
• c.120C>T
• p.Cys40Cys

This HGVS expression did not pass validation

Links:

dbSNP: rs11537578

NCBI 1000 Genomes Browser:

rs11537578

Molecular consequence:

• NM_001318897.2:c.-48C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001318898.2:c.-48C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001318899.2:c.-327C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001039492.3:c.120C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318894.1:c.120C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318895.3:c.120C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001318896.2:c.120C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374399.1:c.120C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001450.4:c.120C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201555.3:c.120C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_201557.5:c.120C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

24