ClinVar

NM_003721.4(RFXANK):c.213C>T (p.Thr71=)

Gene:

RFXANK:regulatory factor X associated ankyrin containing protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.11

Genomic location:

• Chr19: 19196988 (on Assembly GRCh38)
• Chr19: 19307797 (on Assembly GRCh37)

Preferred name:

NM_003721.4(RFXANK):c.213C>T (p.Thr71=)

HGVS:

• NC_000019.10:g.19196988C>T
• NG_007432.1:g.9790C>T
• NM_001278727.2:c.213C>T
• NM_001278728.2:c.210C>T
• NM_001370233.1:c.213C>T
• NM_001370234.1:c.213C>T
• NM_001370235.1:c.210C>T
• NM_001370236.1:c.210C>T
• NM_001370237.1:c.210C>T
• NM_001370238.1:c.213C>T
• NM_003721.4:c.213C>TMANE SELECT
• NM_134440.3:c.210C>T
• NP_001265656.1:p.Thr71=
• NP_001265657.1:p.Thr70=
• NP_001357162.1:p.Thr71=
• NP_001357163.1:p.Thr71=
• NP_001357164.1:p.Thr70=
• NP_001357165.1:p.Thr70=
• NP_001357166.1:p.Thr70=
• NP_001357167.1:p.Thr71=
• NP_003712.1:p.Thr71=
• NP_604389.1:p.Thr70=
• LRG_102:g.9790C>T
• NC_000019.9:g.19307797C>T
• NM_003721.3:c.213C>T
• p.Thr71Thr

This HGVS expression did not pass validation

Links:

dbSNP: rs72997200

NCBI 1000 Genomes Browser:

rs72997200

Molecular consequence:

• NM_001278727.2:c.213C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001278728.2:c.210C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001370233.1:c.213C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001370234.1:c.213C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001370235.1:c.210C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001370236.1:c.210C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001370237.1:c.210C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001370238.1:c.213C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003721.4:c.213C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_134440.3:c.210C>T - synonymous variant - [Sequence Ontology: SO:0001819]