ClinVar

NM_018191.4(RCBTB1):c.1164G>T (p.Leu388Phe)

Gene:

RCBTB1:RCC1 and BTB domain containing protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.2

Genomic location:

• Chr13: 49544745 (on Assembly GRCh38)
• Chr13: 50118881 (on Assembly GRCh37)

Preferred name:

NM_018191.4(RCBTB1):c.1164G>T (p.Leu388Phe)

HGVS:

• NC_000013.11:g.49544745C>A
• NG_046892.1:g.45862G>T
• NM_001352500.2:c.1164G>T
• NM_001352501.2:c.1164G>T
• NM_001352502.2:c.1164G>T
• NM_001352503.2:c.1164G>T
• NM_001352504.2:c.1164G>T
• NM_001352506.2:c.585G>T
• NM_018191.4:c.1164G>TMANE SELECT
• NP_001339429.1:p.Leu388Phe
• NP_001339430.1:p.Leu388Phe
• NP_001339431.1:p.Leu388Phe
• NP_001339432.1:p.Leu388Phe
• NP_001339433.1:p.Leu388Phe
• NP_001339435.1:p.Leu195Phe
• NP_060661.3:p.Leu388Phe
• NC_000013.10:g.50118881C>A
• NM_018191.3:c.1164G>T
• NR_148015.2:n.1558G>T
• NR_148016.2:n.1514G>T

This HGVS expression did not pass validation

Protein change:

L195F; LEU388PHE

Links:

OMIM: 607867.0004; dbSNP: rs879255547

NCBI 1000 Genomes Browser:

rs879255547

Molecular consequence:

• NM_001352500.2:c.1164G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352501.2:c.1164G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352502.2:c.1164G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352503.2:c.1164G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352504.2:c.1164G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352506.2:c.585G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_018191.4:c.1164G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_148015.2:n.1558G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_148016.2:n.1514G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]