ClinVar

NM_001159699.2(FHL1):c.786C>T (p.His262=)

Gene:

FHL1:four and a half LIM domains 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq26.3

Genomic location:

• ChrX: 136209920 (on Assembly GRCh38)
• ChrX: 135292079 (on Assembly GRCh37)

Preferred name:

NM_001159699.2(FHL1):c.786C>T (p.His262=)

HGVS:

• NC_000023.11:g.136209920C>T
• NG_015895.1:g.67521C>T
• NM_001159699.2:c.786C>TMANE SELECT
• NM_001159700.2:c.738C>T
• NM_001159701.2:c.825C>T
• NM_001159702.2:c.938C>T
• NM_001159702.3:c.938C>T
• NM_001159703.2:c.551C>T
• NM_001159704.1:c.738C>T
• NM_001167819.1:c.738C>T
• NM_001330659.2:c.599C>T
• NM_001369326.1:c.938C>T
• NM_001369327.2:c.938C>T
• NM_001369328.1:c.938C>T
• NM_001369329.1:c.738C>T
• NM_001369330.1:c.738C>T
• NM_001369331.1:c.738C>T
• NM_001449.5:c.738C>T
• NP_001153171.1:p.His262=
• NP_001153172.1:p.His246=
• NP_001153173.1:p.His275=
• NP_001153174.1:p.Thr313Met
• NP_001153175.1:p.Thr184Met
• NP_001153176.1:p.His246=
• NP_001161291.1:p.His246=
• NP_001317588.1:p.Thr200Met
• NP_001356255.1:p.Thr313Met
• NP_001356256.1:p.Thr313Met
• NP_001356257.1:p.Thr313Met
• NP_001356258.1:p.His246=
• NP_001356259.1:p.His246=
• NP_001356260.1:p.His246=
• NP_001440.2:p.His246=
• LRG_739t1:c.786C>T
• LRG_739t2:c.938C>T
• LRG_739:g.67521C>T
• LRG_739p1:p.His262=
• LRG_739p2:p.Thr313Met
• NC_000023.10:g.135292079C>T
• NM_001449.4:c.738C>T
• NR_027621.2:n.1149C>T

This HGVS expression did not pass validation

Protein change:

T184M

Links:

dbSNP: rs141231353

NCBI 1000 Genomes Browser:

rs141231353

Molecular consequence:

• NM_001159702.3:c.938C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001159703.2:c.551C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330659.2:c.599C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369326.1:c.938C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369327.2:c.938C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369328.1:c.938C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_027621.2:n.1149C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001159699.2:c.786C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001159700.2:c.738C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001159701.2:c.825C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001159704.1:c.738C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001167819.1:c.738C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369329.1:c.738C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369330.1:c.738C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001369331.1:c.738C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001449.5:c.738C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1