ClinVar

NM_024665.7(TBL1XR1):c.991A>T (p.Ile331Phe)

Genes:

LOC126806878:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:176755168-176756367 [Gene]
TBL1XR1:TBL1X/Y related 1 [Gene - OMIM - HGNC]
TBL1XR1-AS1:TBL1XR1 antisense RNA 1 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q26.32

Genomic location:

• Chr3: 177038369 (on Assembly GRCh38)
• Chr3: 176756157 (on Assembly GRCh37)

Preferred name:

NM_024665.7(TBL1XR1):c.991A>T (p.Ile331Phe)

HGVS:

• NC_000003.12:g.177038369T>A
• NG_047195.1:g.163892A>T
• NM_001321193.3:c.991A>T
• NM_001321194.3:c.991A>T
• NM_001321195.3:c.730A>T
• NM_001374327.1:c.991A>T
• NM_001374328.1:c.991A>T
• NM_001374329.1:c.991A>T
• NM_001374330.1:c.730A>T
• NM_024665.7:c.991A>TMANE SELECT
• NP_001308122.1:p.Ile331Phe
• NP_001308123.1:p.Ile331Phe
• NP_001308124.1:p.Ile244Phe
• NP_001361256.1:p.Ile331Phe
• NP_001361257.1:p.Ile331Phe
• NP_001361258.1:p.Ile331Phe
• NP_001361259.1:p.Ile244Phe
• NP_078941.2:p.Ile331Phe
• NC_000003.11:g.176756157T>A
• NM_024665.4:c.991A>T

This HGVS expression did not pass validation

Protein change:

I244F

Links:

dbSNP: rs1553810244

NCBI 1000 Genomes Browser:

rs1553810244

Molecular consequence:

• NM_001321193.3:c.991A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321194.3:c.991A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321195.3:c.730A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374327.1:c.991A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374328.1:c.991A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374329.1:c.991A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374330.1:c.730A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_024665.7:c.991A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1